Search results for: genetics

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

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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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Authors: Jessica M. Black

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

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

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

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

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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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Authors: Yasser M. Saad, Amr A. El Hanafy, Saleh A. Alkarim, Hussein A. Almehdar, Elrashdy M. Redwan

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Camels are substantial providers of transport, milk, sport, meat, shelter, security and capital in many countries, particularly in Saudi Arabia. Inter simple sequence repeat technique was used to detect the genetic variations among some camel breeds (Majaheim, Safra, Wadah, and Hamara). Actual number of alleles, effective number of alleles, gene diversity, Shannon’s information index and polymorphic bands were calculated for each evaluated camel breed. Neighbor-joining tree that re-constructed for evaluated these camel breeds showed that, Hamara breed is distantly related from the other evaluated camels. In addition, the polymorphic sites, haplotypes and nucleotide diversity were identified for some camelidae cox1 gene sequences (obtained from NCBI). The distance value between C. bactrianus and C. dromedarius (0.072) was relatively low. Analysis of genetic diversity is an important way for conserving Camelus dromedarius genetic resources.

Keywords: camel, genetics, ISSR, neighbor-joining

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Authors: N. K. Bhute, B. B. Bhosle

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Field experiment was conducted during kharif 2005, at the experimental farm of the Department of Genetics and Plant Breeding, College of Agriculture, Marathwada Agricultural University, Parbhani, Maharashtra. F1 and F2 hybrids of 23 Bt and 5 non-Bt hybrids were grown in a randomized block design with two replications. The results showed that among F1 hybrids, open boll damage due to bollworm complex was not noticed in 4233 Bt and 4247 Bt cotton hybrids which were found significantly superior over MECH 6301 Bt (3.2 %), 4255 Bt (3.28 %) and it was at par with rest of the hybrids. Among F2 hybrids minimum open boll damage (3.10 %) was noticed in Proagro 144 Bt, which was found significantly superior over rest of the hybrids except 4234 Bt (4.17 %) and 4254 Bt (4.98 %) which were at par with each other. In respect of seed cotton yield, among F1 hybrids maximum yield (15.51 q/ha) was recorded in 4233 Bt which was found significantly superior over rest of the hybrids except 4237 Bt (15.24 q/ha). Among F2 maximum yield (15.44 q/ha) was recorded in 4233 Bt which was found significantly superior over rest of the hybrids except 4258 Bt (15.41 q/ha), 4239 Bt (15.098 q/ha) which were at par with each other. Thus F2 Bt cotton express Bt protein in segregated pattern in which bollworm attack was more as compared to F1 which affects yield as well as quality of lint.

Keywords: Bt cotton, bollworms, F1 and F2 generations, unprotected condition

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Authors: Abdelhadi Adel, Kadri Ouahab

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This paper proposes an improved approach based on MAS Architecture and Heuristic Algorithm for systematic maintenance to minimize makespan. We have implemented a problem-solving approach for optimizing the processing time, methods based on metaheuristics. The proposed approach is inspired by the behavior of the human body. This hybridization is between a multi-agent system and inspirations of the human body, especially genetics. The effectiveness of our approach has been demonstrated repeatedly in this paper. To solve such a complex problem, we proposed an approach which we have used advanced operators such as uniform crossover set and single point mutation. The proposed approach is applied to three preventive maintenance policies. These policies are intended to maximize the availability or to maintain a minimum level of reliability during the production chain. The results show that our algorithm outperforms existing algorithms. We assumed that the machines might be unavailable periodically during the production scheduling.

Keywords: multi-agent systems, emergence, genetic algorithm, makespan, systematic maintenance, scheduling, hybrid flow shop scheduling

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Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

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Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

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Authors: Abdelhadi Adel, Kadri Ouahab

Abstract:

This paper proposes a hybrid algorithm for the integration of systematic preventive maintenance policies in hybrid flow shop scheduling to minimize makespan. We have implemented a problem-solving approach for optimizing the processing time, methods based on metaheuristics. The proposed approach is inspired by the behavior of the human body. This hybridization is between a multi-agent system and inspirations of the human body, especially genetics. The effectiveness of our approach has been demonstrated repeatedly in this paper. To solve such a complex problem, we proposed an approach which we have used advanced operators such as uniform crossover set and single point mutation. The proposed approach is applied to three preventive maintenance policies. These policies are intended to maximize the availability or to maintain a minimum level of reliability during the production chain. The results show that our algorithm outperforms existing algorithms. We assumed that the machines might be unavailable periodically during the production scheduling.

Keywords: multi-agent systems, emergence, genetic algorithm, makespan, systematic maintenance, scheduling, hybrid flow shop scheduling

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Authors: Masoud Sheidaei, Fahimeh Koohdar

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Date palms are economically important tree plants with high nutrition and medicinal values. More than 400 date palm cultivars are cultivated in many regions of Iran, but no report is available on landscape genetics and species distribution modeling of these trees from the country. Therefore, the present study provides a detailed insight into the genetic diversity and structure of date palm populations in Iran and investigates the effects of geographical and climatic variables on the structuring of genetic diversity in them. We used different computational methods in the study like, spatial principal components analysis (sPCA), redundancy analysis (RDA), latent factor mixed model (LFMM), and Maxent and Dismo models of species distribution modeling. We used a combination of different molecular markers for this study. The results showed that both global and local spatial features play an important role in the genetic structuring of date palms, and the genetic regions associated with local adaptation and climatic variables were identified. The effects of climatic change on the distribution of these taxa and the genetic regions adaptive to these changes will be discussed.

Keywords: adaptive genetic regions, genetic diversity, isolation by distance, populations divergence

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Authors: Xueying Zhao, Ke Ma, Hui Li, Yu Cao, Fan Yang, Qingwen Xu, Wenbin Liu

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Massively parallel sequencing (MPS) technologies allow high-throughput sequencing analyses with a relatively affordable price and have gradually been applied to forensic casework. MPS technology identifies short tandem repeat (STR) loci based on sequence so that repeat motif variation within STRs can be detected, which may help one to infer the origin of the mutation in some cases. Here, we report on one case with one three-step mismatch (D18S51) in family trios based on both capillary electrophoresis (CE) and MPS typing. The alleles of the alleged father (AF) are [AGAA]₁₇AGAG[AGAA]₃ and [AGAA]₁₅. The mother’s alleles are [AGAA]₁₉ and [AGAA]₉AGGA[AGAA]₃. The questioned child’s (QC) alleles are [AGAA]₁₉ and [AGAA]₁₂. Given that the sequence variants in repeat regions of AF and mother are not observed in QC’s alleles, the QC’s allele [AGAA]₁₂ was likely inherited from the AF’s allele [AGAA]₁₅ by loss of three repeat [AGAA]. Besides, two new alleles of D18S51 in this study, [AGAA]₁₇AGAG[AGAA]₃ and [AGAA]₉AGGA[AGAA]₃, have not been reported before. All the results in this study were verified using Sanger-type sequencing. In summary, the MPS typing method can offer valuable information for forensic genetics research and play a promising role in paternity testing.

Keywords: family trios analysis, forensic casework, ion torrent personal genome machine (PGM), massively parallel sequencing (MPS)

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Authors: Kazeem Ajasa Badmus, Zulkifli Idrus, Goh Yong Meng, Kamalludin Mamat-Hamidi

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This study was aimed at evaluating the roles played by early age in performance, organs weights, meat quality traits, and telomere length integrity. One hundred male Cobb 500® broiler chickens were grouped into ten replicates of ten chickens each. Growth performance, measurement of telomere length, weights of organs, and meat quality traits were determined on days 14, 28, and 42 of the experiment. There were significant (p < 0.05) differences obtained in the chicken growth performance across ages. Telomere length of blood, muscle, liver, and heart on day 14 were significantly (p < 0.05) shorter than telomere length obtained on days 28 and 42 of the age. Weights of organs on day 14 were significantly (p < 0.05) higher than those obtained on days 28 and 42. In this study, birds slaughtered on day 14 presented the highest (p < 0.05) pH, drip loss, redness, and yellowness. They, however, showed lower (p < 0.05) cooking loss, shear force, and lightness. There was a significant association between age, telomere length, and meat quality traits. It is therefore concluded that telomere length attrition is associated with early age metabolic activities and could be used to measure chicks' welfare.

Keywords: age, telomere length, organ weights, meat quality

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Authors: Habib Onsori, Somayeh Akrami, Mohammad Rahmati

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Deafness is the most common sensory disorder with the frequency of 1/1000 in many populations. Mutations in the GJB2 (CX26) gene at the DFNB1 locus on chromosome 13q12 are associated with congenital hearing loss. Approximately 80% of congenital hearing loss cases are recessively inherited and 15% dominantly inherited. Mutations of the GJB2 gene, encoding gap junction protein Connexin 26 (Cx26), are the most common cause of hereditary congenital hearing loss in many countries. This report presents two cases of different mutations from Iranian patients with bilateral hearing loss. DNA studies were performed for the GJB2 gene by PCR and sequencing methods. In one of them, direct sequencing of the gene showed a heterozygous T→C transition at nucleotide 604 resulting in a cysteine to arginine amino acid substitution at codon 202 (C202R) in the fourth extracellular domain (TM4) of the protein. The analyses indicate that the C202R mutation appeared de novo in the proband with a possible dominant effect (GenBank: KF 638275). In the other one, DNA sequencing revealed a compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL). So screening the mutations for hearing loss individuals referring to genetics counseling centers before marriage and or pregnancy is recommended.

Keywords: CX26, deafness, GJB2, mutation

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Authors: Abdolreza Esmaeilzadeh, Maryam Erfanmanesh, Sousan Ghasemi, Farzaneh Mohammadi

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Background: Hepatitis C Virus (HCV), a public health problem, is an enveloped, single-stranded RNA virus and a member of the Hepacivirus genus of the Flaviviridae family. Liver cancer, cirrhosis, and end-stage liver are the outcomes of chronic infection with HCV. HCV isolates show significant heterogeneity in genetics around the world. Therefore, determining HCV genotypes is a vital step in determining prognosis and planning therapeutic strategies. Materials and Methods: Serum samples of 136 patients were collected and analyzed for anti-HCV antibodies using ELISA (The enzyme-linked immunosorbent assay) method. Then, positive samples were exposed to RT-PCR, which was performed under standard condition. Afterwards, they investigated for genotyping using allele-specific PCR (AS-PCR), and HCV genotype 2.0 line probe assay (LiPA). Results: Samples indicated 216 bp bands on 2% agarose gel. Analyses of the results demonstrated that the most dominant subtype was 3a with frequency of 38.26% in Zanjan Province followed by subtypes of 1b, 1a, 2, and 4 with frequencies of 25.73%, 22.05%, 5.14%, and 4.41%, respectively. The frequency of unknown HCV genotypes was 4.41%. Conclusions: According to the results, it was found that HCV high prevalent genotype in Zanjan is subtype 3a. Analysis of the results provides identification of certain HCV genotypes, and these valuable findings could affect the type and duration of the treatment.

Keywords: anti-HCV antibody, Hepatitis C Virus (HCV), genotype, RT-PCR, AS-PCR

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Authors: Dang Thuy Binh, Truong Thi Oanh, Le Phan Khanh Hung, Luong thi Tuong Vy

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One of the greatest environmental challenges facing Asia is the management and conservation of the marine biodiversity threaten by fisheries overexploitation, pollution, habitat destruction, and climate change. To date, a few molecular taxonomical studies has been conducted on marine fauna in Vietnam. The purpose of this study was to clarify the phylogeny of economic and ecological reef fish species in Vietnam Reef fish species covering Labridae, Scaridae, Nemipteridae, Serranidae, Acanthuridae, Lutjanidae, Lethrinidae, Mullidae, Balistidae, Pseudochromidae, Pinguipedidae, Fistulariidae, Holocentridae, Synodontidae, and Pomacentridae representing 28 genera were collected from South and Center, Vietnam. Combine with Genbank sequences, a phylogenetic tree was constructed based on 16S gene of mitochondrial DNA using maximum parsimony, maximum likelihood, and Bayesian inference approaches. The phylogram showed the well-resolved clades at genus and family level. Perciformes is the major order of reef fish species in Vietnam. The monophyly of Perciformes is not strongly supported as it was clustered in the same clade with Tetraodontiformes syngnathiformes and Beryciformes. Continue sampling of commercial fish species and classification based on morphology and genetics to build DNA barcoding of fish species in Vietnam is really necessary.

Keywords: reef fish, 16s rDNA, Vietnam, phylogeny

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Authors: Masoud Sheidaei, Melica Tabasi, Fahimeh Koohdar, Mona Sheidaei

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Juglans regia L. is an economically important species of edible nuts. Iran is known as a center of origin of genetically rich walnut germplasm and expected to be found a large diversity within Iranian walnut populations. A detailed population genetic of local populations is useful for developing an optimal strategy for in situ conservation and can assist the breeders in crop improvement programs. Different phylogenetic studies have been carried out in this genus, but none has been concerned with genetic changes associated with geographical divergence and the identification of adaptive SNPs. Therefore, we carried out the present study to identify discriminating ITS nucleotides among Juglans species and also reveal association between ITS SNPs and geographical variables. We used different computations approaches like DAPC, CCA, and RDA analyses for the above-mentioned tasks. We also performed population genetics analyses for population effective size changes associated with the species expansion. The results obtained suggest that latitudinal distribution has a more profound effect on the species genetic changes. Similarly, multiple analytical approaches utilized for the identification of both discriminating DNA nucleotides/ SNPs almost produced congruent results. The SNPs with different phylogenetic importance were also identified by using a parsimony approach.

Keywords: Persian walnut, adaptive SNPs, data analyses, genetic diversity

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Authors: Annu Panghal, Bimla Dhanda

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This research paper aims to determine the genetic-environment influences on the cognitive abilities of twins. Using the 100 pairs of twins from two districts, namely: Bhiwani (N = 90) and Hisar (N = 110) of Haryana State, genetic and environmental influences were assessed in twin study design. The cognitive abilities of twins were measured using the Wechsler Intelligence Scale for Children (WISC-R). Home Observation for Measurement of the Environment (HOME) Inventory was taken to examine the home environment of twins. Heritability estimate was used to analyze the genes contributing to shape the cognitive abilities of twins. The heritability estimates for cognitive abilities of 6-7 years old twins in Hisar district were 74% and in Bhiwani District 76%. Further the heritability estimates were 64% in the twins of Hisar district and 60 in Bhiwani district % in the age group of 7-8 years. The remaining variations in the cognitive abilities of twins were due to environmental factors namely: provision for Active Stimulation, paternal involvement, safe physical environment. The findings provide robust evidence that the cognitive abilities were more influenced by genes than the environmental factors and also revealed that the influence of genetic was more in the age group 6-7 years than the age group 7-8 years. The conclusion of the heritability estimates indicates that the genetic influence was more in the age group of 6-7 years than the age group of 7-8 years. As the age increases the genetic influence decreases and environment influence increases. Mother education was strongly associated with the cognitive abilities of twins.

Keywords: genetics, heritability, twins, environment, cognitive abilities

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Authors: Mohamed El-Shikh

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Phaseolus vulgaris L. is the world’s second most important bean after soybeans; used for human food and animal feed. It has generally been linked to reduced risk of cardiovascular disease, diabetes mellitus, obesity, cancer and diseases of digestive tract. The effectiveness of ISSR in achievement of the genetic diversity among 60 common bean accessions; represent various germplasms around the world was investigated. In general, the studied Phaseolus vulgaris accessions were divided into 2 major groups. All of the South-American accessions were separated into the second major group. These accessions may have different genetic features that are distinct from the rest of the accessions clustered in the major group. Asia and Europe accessions (1-20) seem to be more genetically similar (99%) to each other as they clustered in the same sub-group. The American and African varieties showed similarities as well and clustered in the same sub-tree group. In contrast, Asian and American accessions No. 22 and 23 showed a high level of genetic similarities, although these were isolated from different regions. The phylogenetic tree showed that all the Asian accessions (along with Australian No. 59 and 60) were similar except Indian and Yemen accessions No. 9 and 20. Only Netherlands accession No. 3 was different from the rest of European accessions. Morocco accession No. 52 was genetically different from the rest of the African accessions. Canadian accession No. 44 seems to be different from the other North American accessions including Guatemala, Mexico and USA.

Keywords: phylogenetic tree, Phaseolus vulgaris, ISSR technique, genetics

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Authors: Jinu Phonamontham

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Coronavirus, also referred to as COVID-19, is a virus caused by the SARS-Cov-2 virus. The pandemic has caused over 10 million cases and 500,000 deaths worldwide through the end of June 2020. In a previous study, HLA-DQA1*01:02 allele was associated with COVID-19 disease (p-value = 0.0121). Furthermore, there was a statistical significance between HLA- DQB1*06:02 and COVID-19 in the Italian population by Bonferroni’s correction (p-value = 0.0016). Nevertheless, there is no data describing the distribution of HLA alleles as a valid marker for prediction of COVID-19 in the Thai population. We want to investigate the prevalence of HLA-DQA1*01:02 and HLA-DQB1*06:02 alleles that are associated with severe COVID-19 in the Thai population. In this study, we recruited 200 healthy Thai individuals. Genomic DNA samples were isolated from EDTA blood using Genomic DNA Mini Kit. HLA genotyping was conducted using the Lifecodes HLA SSO typing kits (Immucor, West Avenue, Stamford, USA). The frequency of HLA-DQA1 alleles in Thai population, consisting of HLA-DQA1*01:01 (27.75%), HLA-DQA1*01:02 (24.50%), HLA-DQA1*03:03 (13.00%), HLA-DQA1*06:01 (10.25%) and HLA-DQA1*02:01 (6.75%). Furthermore, the distributions of HLA-DQB1 alleles were HLA-DQB1*05:02 (21.50%), HLA-DQB1*03:01 (15.75%), HLA-DQB1*05:01 (14.50%), HLA-DQB1*03:03 (11.00%) and HLA-DQB1*02:02 (8.25%). Particularly, HLA- DQA1*01:02 (29.00%) allele was the highest frequency in the NorthEast group, but there was not significant difference when compared with the other regions in Thais (p-value = 0.4202). HLA-DQB1*06:02 allele was similarly distributed in Thai population and there was no significant difference between Thais and China (3.8%) and South Korea (6.4%) and Japan (8.2%) with p-value > 0.05. Whereas, South Africa (15.7%) has a significance with Thais by p-value of 0.0013. This study supports the specific genotyping of the HLA-DQA1*01:02 and HLA-DQB1*06:02 alleles to screen severe COVID-19 in Thai and many populations.

Keywords: HLA-DQA1*01:02, HLA-DQB1*06:02, Asian, Thai population

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Authors: Abed Al-Bial, S. Alazazie, A. Shami

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The data were collected from 1992 to 2009 of White Boni sheep maintained at the Regional Research Station in the Central Highlands of Yemen. Data were analyzed to study the growth related traits and their genetic control. The least square means for body weights were 2.26±0.67, 11.14±0.46 and 19.21±1.25 kg for birth weight (BW), weaning weight (WW), six-month weight (WM6), respectively. The pre- and post-weaning average daily weight gains (ADG1 and ADG2) were 106.04±4.98g and 46.21±8.36 g/ day. Significant differences associated with the year of lambing were observed in body weight and weight gain at different stages of growth. Males were heavier and had a higher weight gain than females at almost all stages of growth and differences tended to increase with age. Single-born lambs had a distinct advantage over those born in twin births at all stages of growth. The lambs in the dam’s second to fourth parities were generally of heavier weight and higher daily weight gain than those in other parities. The heritabilities of all body weights, weight gains at different stages of growth were moderate (0.11-0.43). The phenotypic and genetic correlation among the different body weights were positive and high. The genetic correlations of the pre- and post-weaning average daily gains with body weights were hight to moderate, except BW with ADG2.

Keywords: breed, genetics, growth traits, heritability, sheep

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Authors: Jumanah S. Alawfi

Abstract:

Polycystic ovary syndrome (PCOS) is a common endocrinopathy among females in their reproductive years. The incidence cases are nearly 1.55 million among females across the globe, with 0.43 million associated disability-adjusted life-years (DALYs). This syndrome is associated with intricate mechanisms typically characterized by insulin resistance (IR), infertility, overweight and/or obesity. Lifestyle interventions are often prescribed as an adjective treatment. Nonetheless, obesity is a complex disease that encompasses multiple dimensions, such as excessive energy intake and genetics. The melanocortin 4 receptor mutation (MC4R) is an important mediator in appetite. There is emerging evidence that suggests its role in the Body Mass Index (BMI) among PCOS subjects, which poses the question of obesity and/or overweight among the PCOS patients who carry the MC4R variants may be caused by overconsumption. Thereby, using other satiety techniques may be beneficial as a part of personalized nutrition. Therefore, the aim of the current mini-review is to discuss the effect of the vegan low glycemic diet on reducing appetite among PCOS patients. The review shows that there is a gap in the knowledge of the effect of the vegan diet on PCOS patients who carry MC4R variants which need further research.

Keywords: polycystic ovarian syndrome (PCOS), Appetite, Melanocortin 4 Receptor Mutation (MC4R)., Obesity

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Authors: Taha Kadir Yesin, Hanyu Liu, Zhangfan Ding, Amit Singh, Qi Tian, Yuheng Zhang, Biswajyoti Borah, Junyu Chen, Anjali P. Kusumbe

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The skeletal structure and bone marrow endothelium collectively form a critical functional unit essential for bone development, health, and aging. At the core of osteogenesis and bone formation lies the dynamic process of angiogenesis. In this study, we reveal a potent endogenous anabolic NCAM1-14.3.3. ζδ-derived- Peptide interaction, which stimulates bone angiogenesis and osteogenesis during homeostasis, aging, and age-related bone diseases. Employing high-resolution imaging and inducible cell-specific mouse genetics, our results elucidate the pivotal role of the NCAM1-14.3.3.ζδ-derived-Peptide interaction in driving the expansion of Clec14a+ angiogenic endothelial cells. Notably, Clec14a+ endothelial cells express key osteogenic factors. The NCAM1-14.3.3.ζδ-derived-Peptide interaction in osteoblasts drives osteoblast differentiation, ultimately contributing to the genesis of bone. Moreover, the NCAM1-14.3.3.ζδ-derived-Peptide interaction leads to a reduction in bone resorption. In age-associated vascular and bone loss diseases, stimulating the NCAM1-14.3.3.ζδ-derived-Peptide interaction not only promotes angiogenesis but also reverses bone loss. Consequently, harnessing the endogenous anabolic potential of the NCAM1-14.3.3.ζδ-derived-Peptide interaction emerges as a promising therapeutic modality for managing age-related bone diseases.

Keywords: endothelial cell, NCAM1, Clec14a, 14.3.3.ζδ

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Authors: S. Salah, S. A. El-Masry, H. F. Sheba, R. A. El-Banna, W. Saad

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Background: Familial Mediterranean fever (FMF) has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (BMD). Objective: To assess BMD in Egyptian children with FMF on genetic basis. Subjects and Methods: A cross sectional study included 45 FMF patients and 25 control children of both sexes, with age range between 3-16 years old. The patients were reclassified into 2 groups: Group I (A) 23 cases used colchicines for 1 month or less, and Group I (B) 22 cases used colchicines for more than 6 months. For both patients and control, MEFV mutations were defined using molecular genetics technique and BMD was measured by DXA at 2 sites: proximal femur and the lumber spines. Results: four frequent gene mutations were found in the patient group: E148Q (35.6%), V726A (33.3%), M680I (28.9.0%) and M694V (2.2%). There were also 4 heterozygous gene mutations in 40% of control children. Patients received colchicines treatment for less than 1 month had highly significant lower values of BMD at femur and lumber spines than control children (p<0.05). Patients received colchicines treatment for more than 6 months had improved values of BMD at femur compared to control, but there were still significant differences between them at lumbar spine (p>0.05). There are insignificant effect of type of gene mutation on BMD and the risk of osteopenia among the patients. Conclusion: FMF had significant effect on BMD. However, regular use of colchicines treatment improves this effect mainly at femur.

Keywords: familial mediterranean fever, bone mineral density, genes, children

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Authors: Ki-Yeo Kim

Abstract:

Trends in genetics are transforming in order to identify differential coexpressions of correlated gene expression rather than the significant individual gene. Moreover, it is known that a combined biomarker pattern improves the discrimination of a specific cancer. The identification of the combined biomarker is also necessary for the early detection of invasive oral squamous cell carcinoma (OSCC). To identify the combined biomarker that could improve the discrimination of OSCC, we explored an appropriate number of genes in a combined gene set in order to attain the highest level of accuracy. After detecting a significant gene set, including the pre-defined number of genes, a combined expression was identified using the weights of genes in a gene set. We used the Principal Component Analysis (PCA) for the weight calculation. In this process, we used three public microarray datasets. One dataset was used for identifying the combined biomarker, and the other two datasets were used for validation. The discrimination accuracy was measured by the out-of-bag (OOB) error. There was no relation between the significance and the discrimination accuracy in each individual gene. The identified gene set included both significant and insignificant genes. One of the most significant gene sets in the classification of normal and OSCC included MMP1, SOCS3 and ACOX1. Furthermore, in the case of oral dysplasia and OSCC discrimination, two combined biomarkers were identified. The combined genomic expression achieved better performance in the discrimination of different conditions than in a single significant gene. Therefore, it could be expected that accurate diagnosis for cancer could be possible with a combined biomarker.

Keywords: oral squamous cell carcinoma, combined biomarker, microarray dataset, correlated genes

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Authors: G. Tamilpavai, C. Vishnuppriya

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Bioinformatics is an active research area which combines biological matter as well as computer science research. The longest common subsequence (LCSS) is one of the major challenges in various bioinformatics applications. The computation of the LCSS plays a vital role in biomedicine and also it is an essential task in DNA sequence analysis in genetics. It includes wide range of disease diagnosing steps. The objective of this proposed system is to find the longest common subsequence which presents in a normal and various disease affected human DNA sequence using Self Organizing Map (SOM) and LCSS. The human DNA sequence is collected from National Center for Biotechnology Information (NCBI) database. Initially, the human DNA sequence is separated as k-mer using k-mer separation rule. Mean and median values are calculated from each separated k-mer. These calculated values are fed as input to the Self Organizing Map for the purpose of clustering. Then obtained clusters are given to the Longest Common Sub Sequence (LCSS) algorithm for finding common subsequence which presents in every clusters. It returns nx(n-1)/2 subsequence for each cluster where n is number of k-mer in a specific cluster. Experimental outcomes of this proposed system produce the possible number of longest common subsequence of normal and disease affected DNA data. Thus the proposed system will be a good initiative aid for finding disease causing sequence. Finally, performance analysis is carried out for different DNA sequences. The obtained values show that the retrieval of LCSS is done in a shorter time than the existing system.

Keywords: clustering, k-mers, longest common subsequence, SOM

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Authors: Ibrahim Ilker Ozyigit, Fatih Tabanli, Sezin Adinir

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In this study, Ascochyta blight resistance was investigated in 34 registered chickpea varieties, which are widely planting in different regions of Turkey. For this aim, molecular marker techniques, such as STMS, RAPD and ISSR were used. Ta2, Ta146 and Ts54 primers were used for STMS, while UBC733 and UBC681 primers for RAPD, and UBC836 and UBC858 primers for ISSR. Ta2, Ts54 and Ta146 (STMS), and UBC733 (RAPD) primers demonstrated the distinctive feature for Ascochyta blight resistance. Ta2, Ts54 and Ta146 primers yielded the quite effective results in detection of resistant and sensitive varieties. Besides, UBC 733 primer distinguished all kinds of standard did not give any reliable results for other varieties since it demonstrated all as resistant. In addition, monomorphic bands were obtained from UBC681 (RAPD), and UBC836 and UBC858 (ISSR) primers, not demonstrating reliable results in detection of resistance against Ascochyta blight disease. Obtained results informed us about both disease resistance and genetic diversity in registered Turkish chickpea varieties. This project was funded through the Scientific Research Projects of Marmara University under Grant Number FEN-C-YLP-070617-0365 and The Scientific and Technological Research Council of Turkey (TUBITAK) under Grant Number 113O070.

Keywords: plant genetics, ISSR, RAPD, STMS

Procedia PDF Downloads 159

Authors: K. A. Bindu, T. V. Raja, P. M. Rojan, A. Siby

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The multivariate path coefficient approach was employed to study the effects of various production and reproduction traits on the slaughter body weight of rabbits. Information on 562 rabbits maintained at the university rabbit farm attached to the Centre for Advanced Studies in Animal Genetics, and Breeding, Kerala Veterinary and Animal Sciences University, Kerala State, India was utilized. The manifest variables used in the study were age and weight of dam, birth weight, litter size at birth and weaning, weight at first, second and third months. The linear multiple regression analysis was performed by keeping the slaughter weight as the dependent variable and the remaining as independent variables. The model explained 48.60 percentage of the total variation present in the market weight of the rabbits. Even though the model used was significant, the standardized beta coefficients for the independent variables viz., age and weight of the dam, birth weight and litter sizes at birth and weaning were less than one indicating their negligible influence on the slaughter weight. However, the standardized beta coefficient of the second-month body weight was maximum followed by the first-month weight indicating their major role on the market weight. All the other factors influence indirectly only through these two variables. Hence it was concluded that the slaughter body weight can be predicted using the first and second-month body weights. The principal components were also developed so as to achieve more accuracy in the prediction of market weight of rabbits.

Keywords: component analysis, multivariate, slaughter, regression

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Authors: Sean O'Callaghan

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Around 2011/2012, a whole new genre of Christian religious writing began to emerge, focused on the role of advanced technologies, particularly the GRIN technologies (Genetics, Robotics, Information Technology and Nanotechnology), in bringing about a techno-apocalypse, leading to catastrophic events which would usher in the end of the world. This genre, at first niche, has now begun to grow in significance in many quarters of the more fundamentalist and biblically literalist branches of evangelicalism. It approaches science and technology with more than extreme skepticism. It accuses transhumanists of being in league with satanic powers and a satanic agenda and contextualizes transhumanist scientific progress in terms of its service to what it believes to be a soon to come Antichrist figure. The genre has moved beyond literature and videos about its message can be found on YouTube and other forums, where many of the presentations there get well over a quarter of a million views. This paper will examine the genre and its genesis, referring to the key figures involved in spreading the anti-intellectualist and anti-scientific message. It will demonstrate how this genre of writing is similar in many respects to other forms of apocalyptic writing which have emerged in the twentieth and twenty-first centuries, all in response to both scientific and political events which are interpreted in the light of biblical prophecy. It will also set the genre in the context of a contemporary pre-occupation with conspiracy theory. The conclusions of the research conducted in this field by the author are that it does a grave disservice to both the scientific and Christian audiences which it targets, by misrepresenting scientific advances and by creating a hermeneutic of suspicion which makes it impossible for Christians to place their trust in scientific claims.

Keywords: antichrist, catastrophic, Christian, techno-apocalypse

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