Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 106

Search results for: genetics

106 Genetics, Law and Society: Regulating New Genetic Technologies

Authors: Aisling De Paor


Scientific and technological developments are driving genetics and genetic technologies into the public sphere. Scientists are making genetic discoveries as to the make up of the human body and the cause and effect of disease, diversity and disability amongst individuals. Technological innovation in the field of genetics is also advancing, with the development of genetic testing, and other emerging genetic technologies, including gene editing (which offers the potential for genetic modification). In addition to the benefits for medicine, health care and humanity, these genetic advances raise a range of ethical, legal and societal concerns. From an ethical perspective, such advances may, for example, change the concept of humans and what it means to be human. Science may take over in conceptualising human beings, which may push the boundaries of existing human rights. New genetic technologies, particularly gene editing techniques create the potential to stigmatise disability, by highlighting disability or genetic difference as something that should be eliminated or anticipated. From a disability perspective, use (and misuse) of genetic technologies raise concerns about discrimination and violations to the dignity and integrity of the individual. With an acknowledgement of the likely future orientation of genetic science, and in consideration of the intersection of genetics and disability, this paper highlights the main concerns raised as genetic science and technology advances (particularly with gene editing developments), and the consequences for disability and human rights. Through the use of traditional doctrinal legal methodologies, it investigates the use (and potential misuse) of gene editing as creating the potential for a unique form of discrimination and stigmatization to develop, as well as a potential gateway to a form of new, subtle eugenics. This article highlights the need to maintain caution as to the use, application and the consequences of genetic technologies. With a focus on the law and policy position in Europe, it examines the need to control and regulate these new technologies, particularly gene editing. In addition to considering the need for regulation, this paper highlights non-normative approaches to address this area, including awareness raising and education, public discussion and engagement with key stakeholders in the field and the development of a multifaceted genetics advisory network.

Keywords: disability, gene-editing, genetics, law, regulation

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105 A Set of Microsatellite Markers for Population Genetics of Copper-Winged Bat (Myotis rufoniger) Using Saliva DNA

Authors: Junghwa An, Sungkyoung Choi, Eun Ye, San Hoon Han, Young-Gun Choi, Chul Oun Jung


The copper-winged bat (Myotis rufoniger) is the widely distributed medium body-sized bat in Asia, including Korea. This bat population has been decreasing because of habitat loss. This study reported the isolation and characterization of ten polymorphic microsatellite loci in endangered M. rufoniger. To do genetic studies, we use saliva DNA of bats during winter sleep period. The number of alleles per locus ranged from 2 to 9, and the observed and expected heterozygosities ranged from 0.063 to 0.750 and from 0.063 to 0.865, respectively. The average polymorphic information content (PIC) value of these markers was 0.37. Two loci of M. rufoniger showed departure from Hardy-Weinberg equilibrium(HWE). This demonstrated that the ten microsatellite loci can be used as genetic markers for further investigation of the copper-winged bat.

Keywords: copper-winged bat, microsatellite, population genetics, South Korea

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104 SciPaaS: a Scientific Execution Platform for the Cloud

Authors: Wesley H. Brewer, John C. Sanford


SciPaaS is a prototype development of an execution platform/middleware designed to make it easy for scientists to rapidly deploy their scientific applications (apps) to the cloud. It provides all the necessary infrastructure for running typical IXP (Input-eXecute-Plot) style apps, including: a web interface, post-processing and plotting capabilities, job scheduling, real-time monitoring of running jobs, and even a file/case manager. In this paper, first the system architecture is described and then is demonstrated for a two scientific applications: (1) a simple finite-difference solver of the inviscid Burger’s equation, and (2) Mendel’s Accountant—a forward-time population genetics simulation model. The implications of the prototype are discussed in terms of ease-of-use and deployment options, especially in cloud environments.

Keywords: web-based simulation, cloud computing, Platform-as-a-Service (PaaS), rapid application development (RAD), population genetics

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103 Microarrays: Wide Clinical Utilities and Advances in Healthcare

Authors: Salma M. Wakil


Advances in the field of genetics overwhelmed detecting large number of inherited disorders at the molecular level and directed to the development of innovative technologies. These innovations have led to gene sequencing, prenatal mutation detection, pre-implantation genetic diagnosis; population based carrier screening and genome wide analyses using microarrays. Microarrays are widely used in establishing clinical and diagnostic setup for genetic anomalies at a massive level, with the advent of cytoscan molecular karyotyping as a clinical utility card for detecting chromosomal aberrations with high coverage across the entire human genome. Unlike a regular karyotype that relies on the microscopic inspection of chromosomes, molecular karyotyping with cytoscan constructs virtual chromosomes based on the copy number analysis of DNA which improves its resolution by 100-fold. We have been investigating a large number of patients with Developmental Delay and Intellectual disability with this platform for establishing micro syndrome deletions and have detected number of novel CNV’s in the Arabian population with the clinical relevance.

Keywords: microarrays, molecular karyotyping, developmental delay, genetics

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102 Exploring Gaming-Learning Interaction in MMOG Using Data Mining Methods

Authors: Meng-Tzu Cheng, Louisa Rosenheck, Chen-Yen Lin, Eric Klopfer


The purpose of the research is to explore some of the ways in which gameplay data can be analyzed to yield results that feedback into the learning ecosystem. Back-end data for all users as they played an MMOG, The Radix Endeavor, was collected, and this study reports the analyses on a specific genetics quest by using the data mining techniques, including the decision tree method. In the study, different reasons for quest failure between participants who eventually succeeded and who never succeeded were revealed. Regarding the in-game tools use, trait examiner was a key tool in the quest completion process. Subsequently, the results of decision tree showed that a lack of trait examiner usage can be made up with additional Punnett square uses, displaying multiple pathways to success in this quest. The methods of analysis used in this study and the resulting usage patterns indicate some useful ways that gameplay data can provide insights in two main areas. The first is for game designers to know how players are interacting with and learning from their game. The second is for players themselves as well as their teachers to get information on how they are progressing through the game, and to provide help they may need based on strategies and misconceptions identified in the data.

Keywords: MMOG, decision tree, genetics, gaming-learning interaction

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101 The Genetic Basis of the Lack of Impulse Control: What is Provided for the Criminal Law?

Authors: Amir Bastani


The result of the research in the field of human behavioural genetics demonstrates a genetic contribution of behavioural differences in aggression, violence, drug and substance abuse, antisocial personality disorder and other related traits. As the field of human behavioural genetics progresses and achieves credibility, the criminal accused continue to use its types of evidence into the criminal law. One of the most important genetic factors which controls certain neurotransmitters like dopamine and serotonin is the Monoamine Oxidase Acid A (MAOA) gene, known as the 'warrior gene'. The high-profile study by Caspi and colleagues in 2002 showed that the combination between one type of variation of the MAOA gene and childhood maltreatment noticeably predisposes a person to antisocial behaviour. Moreover, further scientific research shows that individuals with the MAOA gene have to some degree difficulties in controlling their impulses. Based on the evidence of MAOA, some criminal accused claimed difficulties in self-control. In the first case – the famous case of Mobley – the court rejected the MAOA evidence on the ground of the lack of scientific support. In contrast, in other cases after the Mobley trial, courts accepted the evidence of MAOA. In this paper, the issue of lack of impulse control produced by the MAOA gene and cases which relied on the MAOA evidence and successfully being accepted will be reviewed in detail. Finally, the anticipation of the paper for the future use of the MAOA evidence in criminal cases will be presented.

Keywords: genetic defence, criminal responsibility, MAOA, self-control

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100 Bioinformatic Approaches in Population Genetics and Phylogenetic Studies

Authors: Masoud Sheidai


Biologists with a special field of population genetics and phylogeny have different research tasks such as populations’ genetic variability and divergence, species relatedness, the evolution of genetic and morphological characters, and identification of DNA SNPs with adaptive potential. To tackle these problems and reach a concise conclusion, they must use the proper and efficient statistical and bioinformatic methods as well as suitable genetic and morphological characteristics. In recent years application of different bioinformatic and statistical methods, which are based on various well-documented assumptions, are the proper analytical tools in the hands of researchers. The species delineation is usually carried out with the use of different clustering methods like K-means clustering based on proper distance measures according to the studied features of organisms. A well-defined species are assumed to be separated from the other taxa by molecular barcodes. The species relationships are studied by using molecular markers, which are analyzed by different analytical methods like multidimensional scaling (MDS) and principal coordinate analysis (PCoA). The species population structuring and genetic divergence are usually investigated by PCoA and PCA methods and a network diagram. These are based on bootstrapping of data. The Association of different genes and DNA sequences to ecological and geographical variables is determined by LFMM (Latent factor mixed model) and redundancy analysis (RDA), which are based on Bayesian and distance methods. Molecular and morphological differentiating characters in the studied species may be identified by linear discriminant analysis (DA) and discriminant analysis of principal components (DAPC). We shall illustrate these methods and related conclusions by giving examples from different edible and medicinal plant species.

Keywords: GWAS analysis, K-Means clustering, LFMM, multidimensional scaling, redundancy analysis

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99 ACTN3 R577X Polymorphism in Romany Children from Eastern Slovakia

Authors: Jarmila Bernasovska, Pavel Ružbarský, Ivan Bernasovsky, Regina Lohajová Behulová


The paper presents the results of the application of molecular genetics methods in sport research, with special emphasis on the most advanced methods and trends in diagnosing of motoric predispositions for the sake of identifying talented children. Genetic tests differ in principle from the traditional motoric tests, because the DNA of an individual does not change during life. Genetics is important in determining the capacity of an individual and for professional sport level. Genetic information can be used for individual genetic predispositions in early childhood. The phenotypes are influenced by a combination of genetic and environmental factors. The aim of the presented study was to examine physical condition, coordination skills, motoric docility and to determine the frequency of ACTN3 (R577X) gene in Romany children from Eastern Slovakia and compared their motoric performance with non-Romany children. This paper is not looking just for a performance, but also its association to genetic predispositions in relation to ACTN3 gene and its R577X polymorphism. Genotype data were obtained from 175 Romany children from 6 to 15 years old and 218 non-Romany children at the same age from Eastern Slovakia. Biological material for genetic analyses comprised samples of buccal swabs. Genotypes were determined using Real Time High resolution melting PCR method (Rotor Gene 6000 Corbett and LightCycler 480 Roche). Romany children of analyzed group legged to non-Romany children at the same age in all the compared tests. The % distribution of R and X alleles in children was different from controls. The frequency of XX genotype was 11,45% which is comparable to a frequency of an Indian population. Data were analysed with the ANOVA statistical programme and parametric and nonparametric tests. This work was supported by grants APVV-0716-10, ITMS 26220120023 and ITMS 26220120041.

Keywords: ACTN3 gene, R577X polymorphism, Romany children, sport performance, Slovakia

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98 TNFRSF11B Gene Polymorphisms A163G and G11811C in Prediction of Osteoporosis Risk

Authors: I. Boroňová, J.Bernasovská, J. Kľoc, Z. Tomková, E. Petrejčíková, D. Gabriková, S. Mačeková


Osteoporosis is a complex health disease characterized by low bone mineral density, which is determined by an interaction of genetics with metabolic and environmental factors. Current research in genetics of osteoporosis is focused on identification of responsible genes and polymorphisms. TNFRSF11B gene plays a key role in bone remodeling. The aim of this study was to investigate the genotype and allele distribution of A163G (rs3102735) osteoprotegerin gene promoter and G1181C (rs2073618) osteoprotegerin first exon polymorphisms in the group of 180 unrelated postmenopausal women with diagnosed osteoporosis and 180 normal controls. Genomic DNA was isolated from peripheral blood leukocytes using standard methodology. Genotyping for presence of different polymorphisms was performed using the Custom Taqman®SNP Genotyping assays. Hardy-Weinberg equilibrium was tested for each SNP in the groups of participants using the chi-square (χ2) test. The distribution of investigated genotypes in the group of patients with osteoporosis were as follows: AA (66.7%), AG (32.2%), GG (1.1%) for A163G polymorphism; GG (19.4%), CG (44.4%), CC (36.1%) for G1181C polymorphism. The distribution of genotypes in normal controls were follows: AA (71.1%), AG (26.1%), GG (2.8%) for A163G polymorphism; GG (22.2%), CG (48.9%), CC (28.9%) for G1181C polymorphism. In A163G polymorphism the variant G allele was more common among patients with osteoporosis: 17.2% versus 15.8% in normal controls. Also, in G1181C polymorphism the phenomenon of more frequent occurrence of C allele in the group of patients with osteoporosis was observed (58.3% versus 53.3%). Genotype and allele distributions showed no significant differences (A163G: χ2=0.270, p=0.605; χ2=0.250, p=0.616; G1181C: χ2= 1.730, p=0.188; χ2=1.820, p=0.177). Our results represents an initial study, further studies of more numerous file and associations studies will be carried out. Knowing the distribution of genotypes is important for assessing the impact of these polymorphisms on various parameters associated with osteoporosis. Screening for identification of “at-risk” women likely to develop osteoporosis and initiating subsequent early intervention appears to be most effective strategy to substantially reduce the risks of osteoporosis.

Keywords: osteoporosis, real-time PCR method, SNP polymorphisms

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97 Development of a Software System for Management and Genetic Analysis of Biological Samples for Forensic Laboratories

Authors: Mariana Lima, Rodrigo Silva, Victor Stange, Teodiano Bastos


Due to the high reliability reached by DNA tests, since the 1980s this kind of test has allowed the identification of a growing number of criminal cases, including old cases that were unsolved, now having a chance to be solved with this technology. Currently, the use of genetic profiling databases is a typical method to increase the scope of genetic comparison. Forensic laboratories must process, analyze, and generate genetic profiles of a growing number of samples, which require time and great storage capacity. Therefore, it is essential to develop methodologies capable to organize and minimize the spent time for both biological sample processing and analysis of genetic profiles, using software tools. Thus, the present work aims the development of a software system solution for laboratories of forensics genetics, which allows sample, criminal case and local database management, minimizing the time spent in the workflow and helps to compare genetic profiles. For the development of this software system, all data related to the storage and processing of samples, workflows and requirements that incorporate the system have been considered. The system uses the following software languages: HTML, CSS, and JavaScript in Web technology, with NodeJS platform as server, which has great efficiency in the input and output of data. In addition, the data are stored in a relational database (MySQL), which is free, allowing a better acceptance for users. The software system here developed allows more agility to the workflow and analysis of samples, contributing to the rapid insertion of the genetic profiles in the national database and to increase resolution of crimes. The next step of this research is its validation, in order to operate in accordance with current Brazilian national legislation.

Keywords: database, forensic genetics, genetic analysis, sample management, software solution

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96 Applying EzRAD Method for SNPs Discovery in Population Genetics of Freshwater and Marine Fish in the South of Vietnam

Authors: Quyen Vu Dang Ha, Oanh Truong Thi, Thuoc Tran Linh, Kent Carpenter, Thinh Doan Vu, Binh Dang Thuy


Enzyme restriction site associated DNA (EzRAD) has recently emerged as a promising genomic approach for exploring fish genetic diversity on a genome-wide scale. This is a simplified method for genomic genotyping in non-model organisms and applied for SNPs discovery in the population genetics of freshwater and marine fish in the South of Vietnam. The observations of regional-scale differentiation of commercial freshwater fish (smallscale croakers Boesemania microlepis) and marine fish (emperor Lethrinus lentjan) are clarified. Samples were collected along Hau River and coastal area in the south and center Vietnam. 52 DNA samples from Tra Vinh, An Giang Province for Boesemania microlepis and 34 DNA samples of Lethrinus lentjan from Phu Quoc, Nha Trang, Da Nang Province were used to prepare EzRAD libraries from genomic DNA digested with MboI and Sau3AI. A pooled sample of regional EzRAD libraries was sequenced using the HiSeq 2500 Illumina platform. For Boesemania microlepis, the small scale population different from upstream to downstream of Hau river were detected, An Giang population exhibited less genetic diversity (SNPs per individual from 14 to 926), in comparison to Tra Vinh population (from 11 to 2172). For Lethrinus lentjan, the result showed the minor difference between populations in the Northern and the Southern Mekong River. The numbers of contigs and SNPs vary from 1315 to 2455 and from 7122 to 8594, respectively (P ≤ 0.01). The current preliminary study reveals regional scale population disconnection probably reflecting environmental changing. Additional sampling and EzRad libraries need to be implemented for resource management in the Mekong Delta.

Keywords: Boesemania microlepis, EzRAD, Lethrinus lentjan, SNPs

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95 The Effects of Fungicide and Genetics on Fungal Diseases on Wheat in Nebraska With Emphasis on Stem Rust

Authors: Javed Sidiqi, Stephen Baezinger, Stephen Wegulo


Wheat (Triticum aestivum L.) production continues to be challenged by foliar fungal diseases although significant improvement has been made to manage the diseases through developing resistant varieties and the fungicide use to ensure sufficient wheat is produced to meet the growing population’s need. Significant crop losses have been recorded in the history of grain production and yield losses due to fungal diseases, and the trend continues to threat food security in the world and particularly in the less developed countries. The impact of individual fungal diseases on grain yield has been studied extensively to determine crop losses. However, there is limited research available to find out the combined effects of fungal diseases on grain yield and the ways to effectively manage the diseases. Therefore, the objectives of this research were to study the effect of fungal pathogens on grain yield of pre-released winter wheat genotypes in fungicide treated and untreated plots, and to determine whether S7b gene was present in ‘Gage’ wheat as previously hypothesized. Sixty winter wheat genotypes in fungicide treated and untreated plots were studied across four environments. There was a significant effect of fungicide on grain yield consistently across four environments in three years. Fungicide treated wheat lines demonstrated (4,496 kg/ ha-1) grain yield compared to (3,147 kg/ ha-1) grain yield in untreated wheat lines indicating 43% increased grain yield due to severity of foliar fungal diseases. Furthermore, fungicide application also caused an increase in protein concentration from 153 (g kg-1) to 164 (g kg-1) in treated plots in along with test weight from 73 to 77 (kg hL-1) respectively. Gage wheat variety and ISr7b-Ra were crossed to determine presence of Sr7b in Gage. The F2 and F2:3 segregating families were screened and evaluated for stem rust resistance. The segregation of families fell within 15:1 ratio for two separate resistance genes suggesting that Sr7b segregates independently from an unknown resistance gene in Gage that needs to be characterized for its use in the future wheat breeding program to develop resistant wheat varieties.

Keywords: funicide, genetics, foliar diseases, grain

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94 Against the Philosophical-Scientific Racial Project of Biologizing Race

Authors: Anthony F. Peressini


The concept of race has recently come prominently back into discussion in the context of medicine and medical science, along with renewed effort to biologize racial concepts. This paper argues that this renewed effort to biologize race by way of medicine and population genetics fail on their own terms, and more importantly, that the philosophical project of biologizing race ought to be recognized for what it is—a retrograde racial project—and abandoned. There is clear agreement that standard racial categories and concepts cannot be grounded in the old way of racial naturalism, which understand race as a real, interest-independent biological/metaphysical category in which its members share “physical, moral, intellectual, and cultural characteristics.” But equally clear is the very real and pervasive presence of racial concepts in individual and collective consciousness and behavior, and so it remains a pressing area in which to seek deeper understanding. Recent philosophical work has endeavored to reconcile these two observations by developing a “thin” conception of race, grounded in scientific concepts but without the moral and metaphysical content. Such “thin,” science-based analyses take the “commonsense” or “folk” sense of race as it functions in contemporary society as the starting point for their philosophic-scientific projects to biologize racial concepts. A “philosophic-scientific analysis” is a special case of the cornerstone of analytic philosophy: a conceptual analysis. That is, a rendering of a concept into the more perspicuous concepts that constitute it. Thus a philosophic-scientific account of a concept is an attempt to work out an analysis of a concept that makes use of empirical science's insights to ground, legitimate and explicate the target concept in terms of clearer concepts informed by empirical results. The focus in this paper is on three recent philosophic-scientific cases for retaining “race” that all share this general analytic schema, but that make use of “medical necessity,” population genetics, and human genetic clustering, respectively. After arguing that each of these three approaches suffers from internal difficulties, the paper considers the general analytic schema employed by such biologizations of race. While such endeavors are inevitably prefaced with the disclaimer that the theory to follow is non-essentialist and non-racialist, the case will be made that such efforts are not neutral scientific or philosophical projects but rather are what sociologists call a racial project, that is, one of many competing efforts that conjoin a representation of what race means to specific efforts to determine social and institutional arrangements of power, resources, authority, etc. Accordingly, philosophic-scientific biologizations of race, since they begin from and condition their analyses on “folk” conceptions, cannot pretend to be “prior to” other disciplinary insights, nor to transcend the social-political dynamics involved in formulating theories of race. As a result, such traditional philosophical efforts can be seen to be disciplinarily parochial and to address only a caricature of a large and important human problem—and thereby further contributing to the unfortunate isolation of philosophical thinking about race from other disciplines.

Keywords: population genetics, ontology of race, race-based medicine, racial formation theory, racial projects, racism, social construction

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93 Habitat Suitability, Genetic Diversity and Population Structure of Two Sympatric Fruit Bat Species Reveal the Need of an Urgent Conservation Action

Authors: Mohamed Thani Ibouroi, Ali Cheha, Claudine Montgelard, Veronique Arnal, Dawiyat Massoudi, Guillelme Astruc, Said Ali Ousseni Dhurham, Aurelien Besnard


The Livingstone's flying fox (Pteropus livingstonii) and the Comorian fruit bat (P.seychellensis comorensis) are two endemic fruit bat species among the mostly threatened animals of the Comoros archipelagos. Despite their role as important ecosystem service providers like all flying fox species as pollinators and seed dispersers, little is known about their ecologies, population genetics and structures making difficult the development of evidence-based conservation strategies. In this study, we assess spatial distribution and ecological niche of both species using Species Distribution Modeling (SDM) based on the recent Ensemble of Small Models (ESMs) approach using presence-only data. Population structure and genetic diversity of the two species were assessed using both mitochondrial and microsatellite markers based on non-invasive genetic samples. Our ESMs highlight a clear niche partitioning of the two sympatric species. Livingstone’s flying fox has a very limited distribution, restricted on steep slope of natural forests at high elevation. On the contrary, the Comorian fruit bat has a relatively large geographic range spread over low elevations in farmlands and villages. Our genetic analysis shows a low genetic diversity for both fruit bats species. They also show that the Livingstone’s flying fox population of the two islands were genetically isolated while no evidence of genetic differentiation was detected for the Comorian fruit bats between islands. Our results support the idea that natural habitat loss, especially the natural forest loss and fragmentation are the important factors impacting the distribution of the Livingstone’s flying fox by limiting its foraging area and reducing its potential roosting sites. On the contrary, the Comorian fruit bats seem to be favored by human activities probably because its diets are less specialized. By this study, we concluded that the Livingstone’s flying fox species and its habitat are of high priority in term of conservation at the Comoros archipelagos scale.

Keywords: Comoros islands, ecological niche, habitat loss, population genetics, fruit bats, conservation biology

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92 Frequent Pattern Mining for Digenic Human Traits

Authors: Atsuko Okazaki, Jurg Ott


Some genetic diseases (‘digenic traits’) are due to the interaction between two DNA variants. For example, certain forms of Retinitis Pigmentosa (a genetic form of blindness) occur in the presence of two mutant variants, one in the ROM1 gene and one in the RDS gene, while the occurrence of only one of these mutant variants leads to a completely normal phenotype. Detecting such digenic traits by genetic methods is difficult. A common approach to finding disease-causing variants is to compare 100,000s of variants between individuals with a trait (cases) and those without the trait (controls). Such genome-wide association studies (GWASs) have been very successful but hinge on genetic effects of single variants, that is, there should be a difference in allele or genotype frequencies between cases and controls at a disease-causing variant. Frequent pattern mining (FPM) methods offer an avenue at detecting digenic traits even in the absence of single-variant effects. The idea is to enumerate pairs of genotypes (genotype patterns) with each of the two genotypes originating from different variants that may be located at very different genomic positions. What is needed is for genotype patterns to be significantly more common in cases than in controls. Let Y = 2 refer to cases and Y = 1 to controls, with X denoting a specific genotype pattern. We are seeking association rules, ‘X → Y’, with high confidence, P(Y = 2|X), significantly higher than the proportion of cases, P(Y = 2) in the study. Clearly, generally available FPM methods are very suitable for detecting disease-associated genotype patterns. We use fpgrowth as the basic FPM algorithm and built a framework around it to enumerate high-frequency digenic genotype patterns and to evaluate their statistical significance by permutation analysis. Application to a published dataset on opioid dependence furnished results that could not be found with classical GWAS methodology. There were 143 cases and 153 healthy controls, each genotyped for 82 variants in eight genes of the opioid system. The aim was to find out whether any of these variants were disease-associated. The single-variant analysis did not lead to significant results. Application of our FPM implementation resulted in one significant (p < 0.01) genotype pattern with both genotypes in the pattern being heterozygous and originating from two variants on different chromosomes. This pattern occurred in 14 cases and none of the controls. Thus, the pattern seems quite specific to this form of substance abuse and is also rather predictive of disease. An algorithm called Multifactor Dimension Reduction (MDR) was developed some 20 years ago and has been in use in human genetics ever since. This and our algorithms share some similar properties, but they are also very different in other respects. The main difference seems to be that our algorithm focuses on patterns of genotypes while the main object of inference in MDR is the 3 × 3 table of genotypes at two variants.

Keywords: digenic traits, DNA variants, epistasis, statistical genetics

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91 Analytical Validity Of A Tech Transfer Solution To Internalize Genetic Testing

Authors: Lesley Northrop, Justin DeGrazia, Jessica Greenwood


ASPIRA Labs now offers an en-suit and ready-to-implement technology transfer solution to enable labs and hospitals that lack the resources to build it themselves to offer in-house genetic testing. This unique platform employs a patented Molecular Inversion Probe (MIP) technology that combines the specificity of a hybrid capture protocol with the ease of an amplicon-based protocol and utilizes an advanced bioinformatics analysis pipeline based on machine learning. To demonstrate its efficacy, two independent genetic tests were validated on this technology transfer platform: expanded carrier screening (ECS) and hereditary cancer testing (HC). The analytical performance of ECS and HC was validated separately in a blinded manner for calling three different types of variants: SNVs, short indels (typically, <50 bp), and large indels/CNVs defined as multi-exonic del/dup events. The reference set was constructed using samples from Coriell Institute, an external clinical genetic testing laboratory, Maine Molecular Quality Controls Inc. (MMQCI), SeraCare and GIAB Consortium. Overall, the analytical performance showed a sensitivity and specificity of >99.4% for both ECS and HC in detecting SNVs. For indels, both tests reported specificity of 100%, and ECS demonstrated a sensitivity of 100%, whereas HC exhibited a sensitivity of 96.5%. The bioinformatics pipeline also correctly called all reference CNV events resulting in a sensitivity of 100% for both tests. No additional calls were made in the HC panel, leading to a perfect performance (specificity and F-measure of 100%). In the carrier panel, however, three additional positive calls were made outside the reference set. Two of these calls were confirmed using an orthogonal method and were re-classified as true positives leaving only one false positive. The pipeline also correctly identified all challenging carrier statuses, such as positive cases for spinal muscular atrophy and alpha-thalassemia, resulting in 100% sensitivity. After confirmation of additional positive calls via long-range PCR and MLPA, specificity for such cases was estimated at 99%. These performance metrics demonstrate that this tech-transfer solution can be confidently internalized by clinical labs and hospitals to offer mainstream ECS and HC as part of their test catalog, substantially increasing access to quality germline genetic testing for labs of all sizes and resources levels.

Keywords: clinical genetics, genetic testing, molecular genetics, technology transfer

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90 Innate Immunity of Insects in Brief

Authors: Ehsan Soleymaninejadian


As the field of immunology is growing day by day, and its chaotic system amazes more people, greed of research in this area is growing; however dealing with human or mammalian cells such as mice make the research expensive. Although there are some differences between higher animals with insects, importance of innate immunity during evolution made it untouched. So, for understanding the innate immunity insects can be good models. They are cheap; reproduction is fast and in the case genetics, less complicated. In this review, we tried to briefly tackle with important factors in insects’ innate immunity such as melanization, encapsulation, JAK-STAT, IMD, and Toll pathways. At the end, we explained how hormones and nerve system also can impact on immune system and make it more beautiful. In concluding remarks, the possibility of taking help from insect immune system to fight against diseases such as cancer has been considered.

Keywords: insects, innate immunity, melanization, intracellular pathways, hormones

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89 Different Roles for Mentors and Mentees in an e-Learning Environment

Authors: Nidhi Gadura


Given the increase in the number of students and administrators asking for online courses the author developed two partially online courses. One was a biology majors at genetics course while the other was a non-majors at biology course. The student body at Queensborough Community College is generally underprepared and has work and family obligations. As an educator, one has to be mindful about changing the pedagogical approach, therefore, special care was taken when designing the course material. Despite the initial concerns, both of these partially online courses were received really well by students. Lessons learnt were that student engagement is the key to success in an online course. Good practices to run a successful online course for underprepared students are discussed in this paper. Also discussed are the lessons learnt for making the eLearning environment better for all the students in the class, overachievers and underachievers alike.

Keywords: partially online course, pedagogy, student engagement, community college

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88 Genetic Analysis of Iron, Phosphorus, Potassium and Zinc Concentration in Peanut

Authors: Ajay B. C., Meena H. N., Dagla M. C., Narendra Kumar, Makwana A. D., Bera S. K., Kalariya K. A., Singh A. L.


The high-energy value, protein content and minerals makes peanut a rich source of nutrition at comparatively low cost. Basic information on genetics and inheritance of these mineral elements is very scarce. Hence, in the present study inheritance (using additive-dominance model) and association of mineral elements was studied in two peanut crosses. Dominance variance (H) played an important role in the inheritance of P, K, Fe and Zn in peanut pods. Average degree of dominance for most of the traits was greater than unity indicating over dominance for these traits. Significant associations were also observed among mineral elements both in F2 and F3 generations but pod yield had no associations with mineral elements (with few exceptions). Di-allele/bi-parental mating could be followed to identify high yielding and mineral dense segregates.

Keywords: correlation, dominance variance, mineral elements, peanut

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87 Blood Flow in Stenosed Arteries: Analytical and Numerical Study

Authors: Shashi Sharma, Uaday Singh, V. K. Katiyar


Blood flow through a stenosed tube, which is of great interest to mechanical engineers as well as medical researchers. If stenosis exists in an artery, normal blood flow is disturbed. The deposition of fatty substances, cholesterol, cellular waste products in the inner lining of an artery results to plaque formation .The present study deals with a mathematical model for blood flow in constricted arteries. Blood is considered as a Newtonian, incompressible, unsteady and laminar fluid flowing in a cylindrical rigid tube along the axial direction. A time varying pressure gradient is applied in the axial direction. An analytical solution is obtained using the numerical inversion method for Laplace Transform for calculating the velocity profile of fluid as well as particles.

Keywords: blood flow, stenosis, Newtonian fluid, medical biology and genetics

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86 Feature Extraction Technique for Prediction the Antigenic Variants of the Influenza Virus

Authors: Majid Forghani, Michael Khachay


In genetics, the impact of neighboring amino acids on a target site is referred as the nearest-neighbor effect or simply neighbor effect. In this paper, a new method called wavelet particle decomposition representing the one-dimensional neighbor effect using wavelet packet decomposition is proposed. The main idea lies in known dependence of wavelet packet sub-bands on location and order of neighboring samples. The method decomposes the value of a signal sample into small values called particles that represent a part of the neighbor effect information. The results have shown that the information obtained from the particle decomposition can be used to create better model variables or features. As an example, the approach has been applied to improve the correlation of test and reference sequence distance with titer in the hemagglutination inhibition assay.

Keywords: antigenic variants, neighbor effect, wavelet packet, wavelet particle decomposition

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85 The Effect of Dopamine D2 Receptor TAQ A1 Allele on Sprinter and Endurance Athlete

Authors: Öznur Özge Özcan, Canan Sercan, Hamza Kulaksız, Mesut Karahan, Korkut Ulucan


Genetic structure is very important to understand the brain dopamine system which is related to athletic performance. Hopefully, there will be enough studies about athletics performance in the terms of addiction-related genetic markers in the future. In the present study, we intended to investigate the Receptor-2 Gene (DRD2) rs1800497, which is related to brain dopaminergic system. 10 sprinter and 10 endurance athletes were enrolled in the study. Real-Time Polymerase Chain Reaction method was used for genotyping. According to results, A1A1, A1A2 and A2A2 genotypes in athletes were 0 (%0), 3 (%15) and 17 (%85). A1A1 genotype was not found and A2 allele was counted as the dominating allele in our cohort. These findings show that dopaminergic mechanism effects on sport genetic may be explained by the polygenic and multifactorial view.

Keywords: addiction, athletic performance, genotype, sport genetics

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84 The Efficiency of Cytochrome Oxidase Subunit 1 Gene (cox1) in Reconstruction of Phylogenetic Relations among Some Crustacean Species

Authors: Yasser M. Saad, Heba El-Sebaie Abd El-Sadek


Some Metapenaeus monoceros cox1 gene fragments were isolated, purified, sequenced, and comparatively analyzed with some other Crustacean Cox1 gene sequences (obtained from National Center for Biotechnology Information). This work was designed for testing the efficiency of this system in reconstruction of phylogenetic relations among some Crustacean species belonging to four genera (Metapenaeus, Artemia, Daphnia and Calanus). The single nucleotide polymorphism and haplotype diversity were calculated for all estimated mt-DNA fragments. The genetic distance values were 0.292, 0.015, 0.151, and 0.09 within Metapenaeus species, Calanus species, Artemia species, and Daphnia species, respectively. The reconstructed phylogenetic tree is clustered into some unique clades. Cytochrome oxidase subunit 1 gene (cox1) was a powerful system in reconstruction of phylogenetic relations among evaluated crustacean species.

Keywords: crustaceans, genetics, Cox1, phylogeny

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83 Distribution System Planning with Distributed Generation and Capacitor Placements

Authors: Nattachote Rugthaicharoencheep


This paper presents a feeder reconfiguration problem in distribution systems. The objective is to minimize the system power loss and to improve bus voltage profile. The optimization problem is subjected to system constraints consisting of load-point voltage limits, radial configuration format, no load-point interruption, and feeder capability limits. A method based on genetic algorithm, a search algorithm based on the mechanics of natural selection and natural genetics, is proposed to determine the optimal pattern of configuration. The developed methodology is demonstrated by a 33-bus radial distribution system with distributed generations and feeder capacitors. The study results show that the optimal on/off patterns of the switches can be identified to give the minimum power loss while respecting all the constraints.

Keywords: network reconfiguration, distributed generation capacitor placement, loss reduction, genetic algorithm

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82 Family Functionality in Mexican Children with Congenital and Non-Congenital Deafness

Authors: D. Estrella, A. Silva, R. Zapata, H. Rubio


A total of 100 primary caregivers (mothers, fathers, grandparents) with at least one child or grandchild with a diagnosis of congenital bilateral profound deafness were assessed in order to evaluate the functionality of families with a deaf member, who was evaluated by specialists in audiology, molecular biology, genetics and psychology. After confirmation of the clinical diagnosis, DNA from the patients and parents were analyzed in search of the 35delG deletion of the GJB2 gene to determine who possessed the mutation. All primary caregivers were provided psychological support, regardless of whether or not they had the mutation, and prior and subsequent, the family APGAR test was applied. All parents, grandparents were informed of the results of the genetic analysis during the psychological intervention. The family APGAR, after psychological and genetic counseling, showed that 14% perceived their families as functional, 62% moderately functional and 24% dysfunctional. This shows the importance of psychological support in family functionality that has a direct impact on the quality of life of these families.

Keywords: deafness, psychological support, family, adaptation to disability

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81 Transdisciplinary Methodological Innovation: Connecting Natural and Social Sciences Research through a Training Toolbox

Authors: Jessica M. Black


Although much of natural and social science research aims to enhance human flourishing and address social problems, the training within the two fields is significantly different across theory, methodology, and implementation of results. Social scientists are trained in social, psychological, and to the extent that it is relevant to their discipline, spiritual development, theory, and accompanying methodologies. They tend not to receive training or learn about accompanying methodology related to interrogating human development and social problems from a biological perspective. On the other hand, those in the natural sciences, and for the purpose of this work, human biological sciences specifically – biology, neuroscience, genetics, epigenetics, and physiology – are often trained first to consider cellular development and related methodologies, and may not have opportunity to receive formal training in many of the foundational principles that guide human development, such as systems theory or person-in-environment framework, methodology related to tapping both proximal and distal psycho-social-spiritual influences on human development, and foundational principles of equity, justice and inclusion in research design. There is a need for disciplines heretofore siloed to know one another, to receive streamlined, easy to access training in theory and methods from one another and to learn how to build interdisciplinary teams that can speak and act upon a shared research language. Team science is more essential than ever, as are transdisciplinary approaches to training and research design. This study explores the use of a methodological toolbox that natural and social scientists can use by employing a decision-making tree regarding project aims, costs, and participants, among other important study variables. The decision tree begins with a decision about whether the researcher wants to learn more about social sciences approaches or biological approaches to study design. The toolbox and platform are flexible, such that users could also choose among modules, for instance, reviewing epigenetics or community-based participatory research even if those are aspects already a part of their home field. To start, both natural and social scientists would receive training on systems science, team science, transdisciplinary approaches, and translational science. Next, social scientists would receive training on grounding biological theory and the following methodological approaches and tools: physiology, (epi)genetics, non-invasive neuroimaging, invasive neuroimaging, endocrinology, and the gut-brain connection. Natural scientists would receive training on grounding social science theory, and measurement including variables, assessment and surveys on human development as related to the developing person (e.g., temperament and identity), microsystems (e.g., systems that directly interact with the person such as family and peers), mesosystems (e.g., systems that interact with one another but do not directly interact with the individual person, such as parent and teacher relationships with one another), exosystems (e.g., spaces and settings that may come back to affect the individual person, such as a parent’s work environment, but within which the individual does not directly interact, macrosystems (e.g., wider culture and policy), and the chronosystem (e.g., historical time, such as the generational impact of trauma). Participants will be able to engage with the toolbox and one another to foster increased transdisciplinary work

Keywords: methodology, natural science, social science, transdisciplinary

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80 Investigating the Association between Escherichia Coli Infection and Breast Cancer Incidence: A Retrospective Analysis and Literature Review

Authors: Nadia Obaed, Lexi Frankel, Amalia Ardeljan, Denis Nigel, Anniki Witter, Omar Rashid


Breast cancer is the most common cancer among women, with a lifetime risk of one in eight of all women in the United States. Although breast cancer is prevalent throughout the world, the uneven distribution in incidence and mortality rates is shaped by the variation in population structure, environment, genetics and known lifestyle risk factors. Furthermore, the bacterial profile in healthy and cancerous breast tissue differs with a higher relative abundance of bacteria capable of causing DNA damage in breast cancer patients. Previous bacterial infections may change the composition of the microbiome and partially account for the environmental factors promoting breast cancer. One study found that higher amounts of Staphylococcus, Bacillus, and Enterobacteriaceae, of which Escherichia coli (E. coli) is a part, were present in breast tumor tissue. Based on E. coli’s ability to damage DNA, it is hypothesized that there is an increased risk of breast cancer associated with previous E. coli infection. Therefore, the purpose of this study was to evaluate the correlation between E. coli infection and the incidence of breast cancer. Holy Cross Health, Fort Lauderdale, provided access to the Health Insurance Portability and Accountability (HIPAA) compliant national database for the purpose of academic research. International Classification of Disease 9th and 10th Codes (ICD-9, ICD-10) was then used to conduct a retrospective analysis using data from January 2010 to December 2019. All breast cancer diagnoses and all patients infected versus not infected with E. coli that underwent typical E. coli treatment were investigated. The obtained data were matched for age, Charlson Comorbidity Score (CCI score), and antibiotic treatment. Standard statistical methods were applied to determine statistical significance and an odds ratio was used to estimate the relative risk. A total of 81286 patients were identified and analyzed from the initial query and then reduced to 31894 antibiotic-specific treated patients in both the infected and control group, respectively. The incidence of breast cancer was 2.51% and present in 2043 patients in the E. coli group compared to 5.996% and present in 4874 patients in the control group. The incidence of breast cancer was 3.84% and present in 1223 patients in the treated E. coli group compared to 6.38% and present in 2034 patients in the treated control group. The decreased incidence of breast cancer in the E. coli and treated E. coli groups was statistically significant with a p-value of 2.2x10-16 and 2.264x10-16, respectively. The odds ratio in the E. coli and treated E. coli groups was 0.784 and 0.787 with a 95% confidence interval, respectively (0.756-0.813; 0.743-0.833). The current study shows a statistically significant decrease in breast cancer incidence in association with previous Escherichia coli infection. Researching the relationship between single bacterial species is important as only up to 10% of breast cancer risk is attributable to genetics, while the contribution of environmental factors including previous infections potentially accounts for a majority of the preventable risk. Further evaluation is recommended to assess the potential and mechanism of E. coli in decreasing the risk of breast cancer.

Keywords: breast cancer, escherichia coli, incidence, infection, microbiome, risk

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79 Genetic Algorithms Based ACPS Safety

Authors: Emine Laarouchi, Daniela Cancila, Laurent Soulier, Hakima Chaouchi


Cyber-Physical Systems as drones proved their efficiency for supporting emergency applications. For these particular applications, travel time and autonomous navigation algorithms are of paramount importance, especially when missions are performed in urban environments with high obstacle density. In this context, however, safety properties are not properly addressed. Our ambition is to optimize the system safety level under autonomous navigation systems, by preserving performance of the CPS. At this aim, we introduce genetic algorithms in the autonomous navigation process of the drone to better infer its trajectory considering the possible obstacles. We first model the wished safety requirements through a cost function and then seek to optimize it though genetics algorithms (GA). The main advantage in the use of GA is to consider different parameters together, for example, the level of battery for navigation system selection. Our tests show that the GA introduction in the autonomous navigation systems minimize the risk of safety lossless. Finally, although our simulation has been tested for autonomous drones, our approach and results could be extended for other autonomous navigation systems such as autonomous cars, robots, etc.

Keywords: safety, unmanned aerial vehicles , CPS, ACPS, drones, path planning, genetic algorithms

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78 Molecular-Genetics Studies of New Unknown APMV Isolated from Wild Bird in Ukraine

Authors: Borys Stegniy, Anton Gerilovych, Oleksii Solodiankin, Vitaliy Bolotin, Anton Stegniy, Denys Muzyka, Claudio Afonso


New APMV was isolated from white fronted goose in Ukraine. This isolate was tested serologically using monoclonal antibodies in haemagglutination-inhibition tests against APMV1-9. As the results obtained isolate showed cross reactions with APMV7. Following investigations were provided for the full genome sequencing using random primers and cloning into pCRII-TOPO. Analysis of 100 transformed colonies of E.coli using traditional sequencing gave us possibilities to find only 3 regions, which could identify by BLAST. The first region with the length of 367 bp had 70 % nucleotide sequence identity to the APMV 12 isolate Wigeon/Italy/3920_1/2005 at genome position 2419-2784. Next region (344 bp) had 66 % identity to the same APMV 12 isolate at position 4760-5103. The last region (365 bp) showed 71 % identity to Newcastle disease virus strain M4 at position 12569-12928.

Keywords: APMV, Newcastle disease virus, Ukraine, full genome sequencing

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77 Genetics of Birth and Weaning Weight of Holstein, Friesians in Sudan

Authors: Safa A. Mohammed Ali, Ammar S. Ahamed, Mohammed Khair Abdalla


The objectives of this study were to estimate the means and genetic parameters of birth and weaning weight of calves of pure Holstein-Friesian cows raised in Sudan. The traits studied were:*Weight at birth *Weight at weaning. The study also included some of the important factors that affected these traits. The data were analyzed using Harvey’s Least Squares and Maximum Likelihood programme. The results obtained showed that the overall mean weight at birth of the calves under study was 34.36±0.94kg. Male calves were found to be heavier than females; the difference between the sexes was highly significant (P<0.001). The mean weight at birth of male calves was 34.27±1.17 kg while that of females was 32.51±1.14kg. The effect of sex of calves, sire and parity of dam were highly significant (P<0.001). The overall mean of weight at weaning was 67.10 ± 5.05 kg, weight at weaning was significantly (p<0.001) effected by sex of calves, sire, year and season of birth have highly significant (P<0.001) effect on either trait. Also estimates heritabilities of birth weight was (0.033±0.015) lower than heritabilities of weaning weight (0.224±0.039), and genetic correlation was 0.563, the phenotypic correlation 0.281, and the environmental correlation 0.268.

Keywords: birth, weaning, weight, friesian

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