Search results for: autosomal recessive genetic disorder (ARGD)

Authors: Ali Al Orf, Khawaja Bilal Waheed

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Background and objective: Joubert syndrome (JS) is a rare, autosomal-recessive condition. Early recognition is important for management and counseling. Magnetic resonance imaging (MRI) can help in diagnosis. Therefore, we sought to evaluate clinical presentation and MRI findings in Joubert syndrome and related disorders. Method: A retrospective review of genetically proven cases of Joubert syndromes and related disorders was reviewed for their clinical presentation, demographic information, and magnetic resonance imaging findings in a period of the last 10 years. Two radiologists documented magnetic resonance imaging (MRI) findings. The presence of hypoplasia of the cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the “Molar Tooth Sign” in the mid-brain was documented. Genetic testing results were collected to label genes linked to the diagnoses. Results: Out of 12 genetically proven JS cases, most were females (9/12), and nearly all presented with hypotonia, ataxia, developmental delay, intellectual impairment, and speech disorders. 5/12 children presented at age of 1 or below. The molar tooth sign was seen in 10/12 cases. Two cases were associated with other brain findings. Most of the cases were found associated with consanguineous marriage Conclusion and discussion: The molar tooth sign is a frequent and reliable sign of JS and related disorders. Genes related to defective cilia result in malfunctioning in the retina, renal tubule, and neural cell migration, thus producing heterogeneous syndrome complexes known as “ciliopathies.” Other ciliopathies like Senior-Loken syndrome, Bardet Biedl syndrome, and isolated nephronophthisis must be considered as the differential diagnosis of JS. The main imaging findings are the partial or complete absence of the cerebellar vermis, hypoplastic cerebellar peduncles (giving MTS), and (bat-wing appearance) fourth ventricular deformity. LimitationsSingle-center, small sample size, and retrospective nature of the study were a few of the study limitations.

Keywords: Joubart syndrome, magnetic resonance imaging, molar tooth sign, hypotonia

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Authors: Sikander Singh Cheema, Jasmeen Kaur

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In this paper, the concept of data mining is summarized and its one of the important process i.e KDD is summarized. The data mining based on Genetic Algorithm is researched in and ways to achieve the data mining Genetic Algorithm are surveyed. This paper also conducts a formal review on the area of data mining tasks and genetic algorithm in various fields.

Keywords: data mining, KDD, genetic algorithm, descriptive mining, predictive mining

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Authors: Fariborz Ahmadi, Reza Tati

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Genetic algorithm is a soft computing method that works on set of solutions. These solutions are called chromosome and the best one is the absolute solution of the problem. The main problem of this algorithm is that after passing through some generations, it may be produced some chromosomes that had been produced in some generations ago that causes reducing the convergence speed. From another respective, most of the genetic algorithms are implemented in software and less works have been done on hardware implementation. Our work implements genetic algorithm in hardware that doesn’t produce chromosome that have been produced in previous generations. In this work, most of genetic operators are implemented without producing iterative chromosomes and genetic diversity is preserved. Genetic diversity causes that not only do not this algorithm converge to local optimum but also reaching to global optimum. Without any doubts, proposed approach is so faster than software implementations. Evaluation results also show the proposed approach is faster than hardware ones.

Keywords: hardware, genetic algorithm, computer science, engineering

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Authors: Kakali Roy, Sahana P. Raju, Subhra Dhar, Sandipan Dhar

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Introduction: Xeroderma pigmentosa (XP) is a rare inherited (autosomal recessive) disease resulting from impairment in DNA repair that involves recognition and repair of ultraviolet radiation (UVR) induced DNA damage in the nucleotide excision repair pathway. Which results in increased photosensitivity, UVR induced damage to skin and eye, increased susceptibility of skin and ocular cancer, and progressive neurodegeneration in some patients. XP is present worldwide, with higher incidence in areas having frequent consanguinity. Being extremely rare, there is limited literature on XP and associated complications. Here, the clinico-pathological experience (spectrum of clinical presentation, histopathological findings of malignant skin lesions, and progression) of managing 8 cases of XP is presented. Methodology: A retrospective study was conducted in a pediatric tertiary care hospital in eastern India during a ten-year period from 2013 to 2022. A clinical diagnosis was made based on severe sun burn or premature photo-aging and/or onset of cutaneous malignancies at early age (1st decade) in background of consanguinity and autosomal recessive inheritance pattern in family. Results: The mean age of presentation was 1.2 years (range of 7month-3years), while three children presented during their infancy. Male to female ratio was 5:3, and all were born of consanguineous marriage. They presented with dermatological manifestations (100%) followed by ophthalmic (75%) and/or neurological symptoms (25%). Patients had normal skin at birth but soon developed extreme sensitivity to UVR in the form of exaggerated sun tanning, burning, and blistering on minimal sun exposure, followed by abnormal skin pigmentation like freckles and lentiginosis. Subsequently, over time there was progressive xerosis, atrophy, wrinkling, and poikiloderma. Six patients had varied degree of ocular involvement, while three of them had severe manifestation, including madarosis, tylosis, ectropion, Lagopthalmos, Pthysis bulbi, clouding and scarring of the cornea with complete or partial loss of vision, and ophthalmic malignancies. 50% (n=4) cases had skin and ocular pre-malignant (actinic keratosis) and malignant lesions, including melanoma and non melanoma skin cancer (NMSC) like squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) in their early childhood. One patient had simultaneous occurrence of multiple malignancies together (SCC, BCC, and melanoma). Subnormal intelligence was noticed as neurological feature, and none had sensory neural hearing loss, microcephaly, neuroregression, or neurdeficit. All the patients had been being managed by a multidisciplinary team of pediatricians, dermatologists, ophthalmologists, neurologists and psychiatrists. Conclusion: Although till date there is no complete cure for XP and the disease is ultimately fatal. But increased awareness, early diagnosis followed by persistent vigorous protection from UVR, and regular screening for early detection of malignancies along with psychological support can drastically improve patients’ quality of life and life expectancy. Further research is required on formulating optimal management of XP, specifically the role and possibilities of gene therapy in XP.

Keywords: childhood malignancies, dermato-pathological findings, eastern India, Xeroderma pigmentosa

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Authors: M. F. Miah, A. Chakrabarty

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Two popular and highly valued fish, Stinging catfish (Heteropneustes fossilis) and Asian catfish (Clarias batrachus) are considered for observing genetic enhancement. Cross breeding was performed considering wild and farmed fish through inducing agent. Five RAPD markers were used to assess genetic diversity among parents and offspring of these two catfish for evaluating genetic enhancement in F1 generation. Considering different genetic data such as banding pattern of DNA, polymorphic loci, polymorphic information content (PIC), inter individual pair wise similarity, Nei genetic similarity, genetic distance, phylogenetic relationships, allele frequency, genotype frequency, intra locus gene diversity and average gene diversity of parents and offspring of these two fish were analyzed and finally in both cases higher genetic diversity was found in F1 generation than the parents.

Keywords: Heteropneustes fossilis, Clarias batrachus, cross breeding, genetic enhancement

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Authors: Aniket Kumar, Jacob Peedicayil

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Major depressive disorder (MDD) is a common and important psychiatric disorder. Several clinical features of MDD suggest an epigenetic basis for its pathogenesis. Since epigenetics (heritable changes in gene expression not involving changes in DNA sequence) may underlie the pathogenesis of MDD, epigenetic drugs such as DNA methyltransferase inhibitors (DNMTi) and histone deactylase inhibitors (HDACi) may be useful for treating MDD. The available literature indexed in Pubmed on preclinical drug trials of epigenetic drugs for the treatment of MDD was investigated. The search terms we used were ‘depression’ or ‘depressive’ and ‘HDACi’ or ‘DNMTi’. Among epigenetic drugs, it was found that there were 3 preclinical trials using HDACi and 3 using DNMTi for the treatment of MDD. All the trials were conducted on rodents (mice or rats). The animal models of depression that were used were: learned helplessness-induced animal model, forced swim test, open field test, and the tail suspension test. One study used a genetic rat model of depression (the Flinders Sensitive Line). The HDACi that were tested were: sodium butyrate, compound 60 (Cpd-60), and valproic acid. The DNMTi that were tested were: 5-azacytidine and decitabine. Among the three preclinical trials using HDACi, all showed an antidepressant effect in animal models of depression. Among the 3 preclinical trials using DNMTi also, all showed an antidepressant effect in animal models of depression. Thus, epigenetic drugs, namely, HDACi and DNMTi, may prove to be useful in the treatment of MDD and merit further investigation for the treatment of this disorder.

Keywords: DNA methylation, drug discovery, epigenetics, major depressive disorder

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Authors: D. R. Apoorva

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare oculocutaneous disorder of genetic origin. This disorder results from mutations in the membrane-bound transcription factor protease site, two genes that impair cholesterol homeostasis, and the ability to cope with endoplasmic reticulum stress. We report a rare case of IFAP syndrome with an atypical presentation, and it was interesting to note that the child had patchy non-scarring alopecia over the scalp along with unilateral madarosis. To our best knowledge, this unique presentation has not been described earlier. The child presented with photophobia and unilateral ptosis. The child also had short stature and intellectual disability. Skin histopathology was nonspecific and consisted of dilated hair follicles with keratin plugs extending above the skin surface. This rare oculocutaneous disorder requires proper documentation so that identification of its variants may be possible in the future. Early recognition of atypical presentations can help in preventing cardiovascular complications, which remain the major cause of death.

Keywords: alopecia, photophobia, ichthyosis follicularis, IFAP syndrome

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Authors: Zainab S. Ahmed, Mohammed S. Ali, Nadia A. Elshiekh, Sami Adam Ibrahim, Ghada M. El-Tayeb, Ahmed H. Elsadig, Rihab A. Omer, Sofia B. Mohamed

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Maple syrup urine (MSUD) is an autosomal recessive disease that causes a deficiency in the enzyme branched-chain alpha-keto acid (BCKA) dehydrogenase. The development of disease has been associated with SNPs in the DBT gene. Despite that, the computational analysis of SNPs in coding and noncoding and their functional impacts on protein level still remains unknown. Hence, in this study, we carried out a comprehensive in silico analysis of missense that was predicted to have a harmful influence on DBT structure and function. In this study, eight different in silico prediction algorithms; SIFT, PROVEAN, MutPred, SNP&GO, PhD-SNP, PANTHER, I-Mutant 2.0 and MUpo were used for screening nsSNPs in DBT including. Additionally, to understand the effect of mutations in the strength of the interactions that bind protein together the ELASPIC servers were used. Finally, the 3D structure of DBT was formed using Mutation3D and Chimera servers respectively. Our result showed that a total of 15 nsSNPs confirmed by 4 software (R301C, R376H, W84R, S268F, W84C, F276C, H452R, R178H, I355T, V191G, M444T, T174A, I200T, R113H, and R178C) were found damaging and can lead to a shift in DBT gene structure. Moreover, we found 7 nsSNPs located on the 2-oxoacid_dh catalytic domain, 5 nsSNPs on the E_3 binding domain and 3 nsSNPs on the Biotin Domain. So these nsSNPs may alter the putative structure of DBT’s domain. Furthermore, we detected all these nsSNPs are on the core residues of the protein and have the ability to change the stability of the protein. Additionally, we found W84R, S268F, and M444T have high significance, and they affected Leucine, Isoleucine, and Valine, which reduces or disrupt the function of BCKD complex, E2-subunit which the DBT gene encodes. In conclusion, based on our extensive in-silico analysis, we report 15 nsSNPs that have possible association with protein deteriorating and disease-causing abilities. These candidate SNPs can aid in future studies on Maple Syrup Urine Disease type II base in the genetic level.

Keywords: DBT gene, ELASPIC, in silico analysis, UCSF chimer

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Authors: Khaled Al-Najjar, Ahmad Q. Al-Momani, Ahmed Elnahas, Reda Elsaid

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The research was carried out using records of Awassi sheep bred in drylands at Al-Fjaj Station, Jordan. That aimed to study non-genetic factors affecting milk yield (MK), litter size at birth (LZB); estimate heritability, repeatability, and genetic and phenotypic correlation using SAS and MTDFREML programs. The results were as follows, the average MK and LZB were 92.84 (kg) and 1.16, respectively. MK was highly significantly affected by each parity, age of ewe, year of lambing, and lactation period, while only the year of lambing had a significant effect on LZB. The heritability and repeatability were 0.07 and 0.10 for MK, while it was 0.05 and 0.25 for LZB. The genetic and phenotypic correlations were 0.17 and 0.02 between MK and LZB, respectively. The research concluded that the herd is genetically homozygous and therefore needs to increase genetic variance by introducing LZB-improved rams and selecting females from dams who achieved at least four parties to increase returns in drylands.

Keywords: Awassi sheep, genetic parameters, litter size, milk yield

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Authors: Amy Gooden

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Despite its prevalence, direct-to-consumer genetic testing (DTC-GT) remains under-investigated in South Africa (SA), and the issue of regulation is yet to be examined. Therefore, this research maps the current legal landscape relating to DTC-GT in SA through a legal analysis of the extant law relevant to the industry and the issues associated therewith – with the intention of determining if and how DTC-GT is legally governed. This research analyses: whether consumers are legally permitted to collect their saliva; whether DTC-GT are medical devices; licensing, registering, and advertising; importing and exporting; and genetic research conducted by companies.

Keywords: direct-to-consumer genetic testing, genetic testing, health, law, regulation, South Africa

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Authors: Norezzine Abdelaziz, Rebouh Nazih Yacer, Kezimana Parfait, Parpura D. I., Gadzhikurbanov A., Anastasios Dranidis

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The genetic variation of Shvicezebuvides cattle from three different farms in the Tajikistan Republic was studied using 10 microsatellite markers (SSR). The trials were laid out using a multi- locus analysis system for the analysis of cattle microsatellite locus. An estimated genetic variability of the examined livestock is given in the article. The results of our SSR analysis as well as the numbers and frequencies of common alleles in studied samples, we established a high genetic similarity of studied samples. These results can also be furthermore useful in the decision making for preservation and rational genetic resources usage of the Tajik Shvicezebuvides cattle.

Keywords: genetic characteristic, frequencies of the occurrence alleles, microsatellite markers, Swiss cattle

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Authors: Mohammed Jamal Al-Mansor, Kok Beng Gan

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This paper develops an optimized embedding of payload in medical image by using genetic optimization. The goal is to preserve region of interest from being distorted because of the watermark. By using this developed system there is no need of manual defining of region of interest through experts as the system will apply the genetic optimization to select the parts of image that can carry the watermark with guaranteeing less distortion. The experimental results assure that genetic based optimization is useful for performing steganography with less mean square error percentage.

Keywords: AES, DWT, genetic algorithm, watermarking

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Authors: Mustafa Yorgancılar, Emine Atalay, Necdet Akgün, Ali Topal

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In this study, polymerase chain reaction based Inter-simple sequence repeat (ISSR) from DNA fingerprinting techniques were used to investigate the genetic relationships among barley crossbreed genotypes in Turkey. It is important that selection based on the genetic base in breeding programs via ISSR, in terms of breeding time. 14 ISSR primers generated a total of 97 bands, of which 81 (83.35%) were polymorphic. The highest total resolution power (RP) value was obtained from the F2 (0.53) and M16 (0.51) primers. According to the ISSR result, the genetic similarity index changed between 0.64–095; Lane 3 with Line 6 genotypes were the closest, while Line 36 were the most distant ones. The ISSR markers were found to be promising for assessing genetic diversity in barley crossbreed genotypes.

Keywords: barley, crossbreed, genetic similarity, ISSR

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Authors: Farman Ali, Asif Mahmood

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The utilization of genetic markers in prostate cancer management represents a significant advance in personalized medicine, offering the potential for more precise diagnosis and tailored treatment strategies. This paper explores the pivotal role of genetic markers in the diagnosis and treatment of prostate cancer, emphasizing their contribution to the identification of individual risk profiles, tumor aggressiveness, and response to therapy. By integrating current research findings, we discuss the application of genetic markers in developing targeted therapies and the implications for patient outcomes. Despite the promising advancements, challenges such as accessibility, cost, and the need for further validation in diverse populations remain. The paper concludes with an outlook on future directions, underscoring the importance of genetic markers in revolutionizing prostate cancer care.

Keywords: prostate cancer, genetic markers, personalized medicine, BRCA1 and BRCA2

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Authors: N. C. van der Merwe, J. Oosthuizen, M. F. Makhetha, J. Adams, B. K. Dajee, S-R. Schneider

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Women representing high-risk breast cancer families, who tested negative for pathogenic mutations in BRCA1 and BRCA2, are four times more likely to develop breast cancer compared to women in the general population. Sequencing of genes involved in genomic stability and DNA repair led to the identification of novel contributors to familial breast cancer risk. These include BLM and PALB2. Bloom's syndrome is a rare homozygous autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia and is associated with breast cancer when in a heterozygous state. PALB2, on the other hand, binds to BRCA2 and together, they partake actively in DNA damage repair. Archived DNA samples of 66 BRCA1/2 negative high-risk breast cancer patients were retrospectively selected based on the presence of an extensive family history of the disease ( > 3 affecteds per family). All coding regions and splice-site boundaries of both genes were screened using High-Resolution Melting Analysis. Samples exhibiting variation were bi-directionally automated Sanger sequenced. The clinical significance of each variant was assessed using various in silico and splice site prediction algorithms. Comprehensive screening identified a total of 11 BLM and 26 PALB2 variants. The variants detected ranged from global to rare and included three novel mutations. Three BLM and two PALB2 likely pathogenic mutations were identified that could account for the disease in these extensive breast cancer families in the absence of BRCA mutations (BLM c.11T > A, p.V4D; BLM c.2603C > T, p.P868L; BLM c.3961G > A, p.V1321I; PALB2 c.421C > T, p.Gln141Ter; PALB2 c.508A > T, p.Arg170Ter). Conclusion: The study confirmed the contribution of pathogenic mutations in BLM and PALB2 to the familial breast cancer burden in South Africa. It explained the presence of the disease in 7.5% of the BRCA1/2 negative families with an extensive family history of breast cancer. Segregation analysis will be performed to confirm the clinical impact of these mutations for each of these families. These results justify the inclusion of both these genes in a comprehensive breast and ovarian next generation sequencing cancer panel and should be screened simultaneously with BRCA1 and BRCA2 as it might explain a significant percentage of familial breast and ovarian cancer in South Africa.

Keywords: Bloom Syndrome, familial breast cancer, PALB2, South Africa

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Authors: Amy Gooden, Meshandren Naidoo

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Genetic research and transfers of big data are not confined to a particular jurisdiction, but there is a lack of clarity regarding the legal requirements for importing and exporting such data. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

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Authors: H. Bahbahani, H. Musa, F. Al Mathen

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The dromedary camels (Camelus dromedarius) are single-humped even-toed ungulates populating the African Sahara, Arabian Peninsula, and Southwest Asia. The genome of this desert-adapted species has been minimally investigated using autosomal microsatellite and mitochondrial DNA markers. In this study, the genomes of 33 dromedary camel samples from different parts of the Arabian Peninsula were sequenced using Illumina Next Generation Sequencing (NGS) platform. These data were combined with Genotyping-by-Sequencing (GBS) data from African (Sudanese) dromedaries to investigate the genomic relationship between African and Arabian Peninsula dromedary camels. Principle Component Analysis (PCA) and average genome-wide admixture analysis were be conducted on these data to tackle the objectives of these studies. Both of the two analyses conducted revealed phylogeographic distinction between these two camel populations. However, no breed-wise genetic classification has been revealed among the African (Sudanese) camel breeds. The Arabian Peninsula camel populations also show higher heterozygosity than the Sudanese camels. The results of this study explain the evolutionary history and migration of African dromedary camels from their center of domestication in the southern Arabian Peninsula. These outputs help scientists to further understand the evolutionary history of dromedary camels, which might impact in conserving the favorable genetic of this species.

Keywords: dromedary, genotyping-by-sequencing, Arabian Peninsula, Sudan

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Authors: Mohammed Althobiti, Patrick Booms, Dorota Fiszer, Philip Hopkins

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Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle. MH results from anaesthetics induced breakdown of calcium homeostasis. RYR1 and CACN1AS mutations represent the aetiology in ~70% of the MH population. Previous studies indicate that up to 25% of MH patients carry no variants in these genes. Therefore, the aim of this study is to investigate the relationships between MH susceptibility and genes encoding skeletal muscle Ca2+ channels as well as accessory proteins. The JSRP, encoding JP-45, was previously sequenced and novel genetic variants were identified. The variant p.P108L (c.323C > T) was identified in exon 4 and encodes a change from a proline at amino acid 108 to leucine residue. The variant P108L was detected in two patients out of 50 with 4% frequency in the sample population. The alignment of DNA sequences in different species indicates highly conserved proline sequences involved in the substitution of the P108L variant. In this study, the variant P108L co-segregates with the SNP p.V92A (c.275T > C) at the same exon, both variants being inherited in the same two patients only. This indicates that the two variants may represent a haplotype. Therefore, a set of single nucleotide polymorphisms and statistical analysis will be used to investigate the effects of haplotypes on MH susceptibility. Furthermore, investigating the effect of the P108L variant in combination with RYR1 mutations or other genetic variants in other genes as a combination of two or more genetic variants, haplotypes may then provide stronger genetic evidence indicating that JSRP1 is associated with MH susceptibility. In conclusion, these preliminary results lend a potential modifier role of the variant P108L in JSRP1 in MH susceptibility and further investigations are suggested to confirm these results.

Keywords: JSRP1, malignant hyperthermia, RyR1, skeletal muscle

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Authors: Parker Townes, Prabdeep Panesar, Chunlin Liu, Soo Youn Lee, Dan Devoe, Paul D. Arnold, Jennifer Crosbie, Russell Schachar

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Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are impairing childhood neurodevelopmental disorders with problems in executive functions. Executive functions are higher-level mental processes essential for daily functioning and goal attainment. There is genetic and neural overlap between ADHD and ASD. The aim of this meta-analysis was to evaluate if pediatric ASD and ADHD have distinct executive function profiles. This review was completed following Cochrane guidelines. Fifty-eight articles were identified through database searching, followed by a blinded screening in duplicate. A meta-analysis was performed for all task performance metrics evaluated by at least two articles. Forty-five metrics from 24 individual tasks underwent analysis. No differences were found between youth with ASD and ADHD in any domain under direct comparison. However, individuals with ASD and ADHD exhibited deficient attention, flexibility, visuospatial abilities, working memory, processing speed, and response inhibition compared to controls. No deficits in planning were noted in either disorder. Only 11 studies included a group with comorbid ASD+ADHD, making it difficult to determine whether common executive function deficits are a function of comorbidity. Further research is needed to determine if comorbidity accounts for the apparent commonality in executive function between ASD and ADHD.

Keywords: autism spectrum disorder, ADHD, neurocognition, executive function, youth

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Authors: Ratneev Kaur, Tajinder Kaur, Anupam Kaur

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Introduction: Polycystic Ovary Syndrome (PCOS) is a heterogenous disorder of endocrine system among women of reproductive age. PCOS is characterized by hyperandrogenism, anovulation, polycystic ovaries, hirsutism, obesity, and hyperinsulinemia. Several pathways are implicated in its etiology including the metabolic pathway of steroid hormone synthesis regulatory pathways. PCOS is an androgen excess disorder, genes operating in steroidogenesis may alter pathogenesis of PCOS. The cytochrome P450scc is a cholesterol side chain cleavage enzyme coded by CYP11A1 gene and catalyzes conversion of cholesterol to pregnenolone, the initial and rate-limiting step in steroid hormone synthesis. It is postulated that polymorphisms in this gene may play an important role in the regulation of CYP11A1 expression and leading to increased or decreased androgen production. The present study will be the first study from north India to best of our knowledge, to analyse the association of CYP11A1 (rs11632698) polymorphism in women suffering from PCOS. Methodology: The present study was approved by ethical committee of Guru Nanak Dev University in consistent with declaration of Helsinki. A total of 300 samples (150 PCOS cases and 150 controls) were recruited from Hartej hospital, for the present study. Venous blood sample (3ml) was withdrawn from women diagnosed with PCOS by doctor, according to Rotterdam 2003 criteria and from healthy age matched controls only after informed consent and detailed filled proforma. For molecular genetics analysis, blood was stored in EDTA vials. After DNA isolation by organic method, PCR-RFLP approach was used for genotyping and association analysis of rs11632698 polymorphism. Statistical analysis was done to check for significance of selected polymorphism with PCOS. Results: In 150 PCOS cases, the frequency of AA, AG and GG genotype was found to be 48%, 35%, and 13% compared to 62%, 27% and 8% in 150 controls. The major allele (A) and minor allele (G) frequency was 68% and 32% in cases and 78% and 22% in controls. Minor allele frequency was higher in cases as compared to controls, as well as the distribution of genotype was observed to be statistically significant (ᵡ²=6.525, p=0.038). Odds ratio in dominant, co-dominant and recessive models observed was 1.81 (p=0.013), 1.54 (p=0.012) and 1.77 (p=0.132) respectively. Conclusion: The present study showed statistically significant association of rs11632698 with PCOS (p=0.038) in North Indian women.

Keywords: polycystic ovary syndrome, CYP11A1, rs11632698, hyperandrogenism

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Authors: Nadia Warmilee

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This study is s descriptive-analytical research and it aims at studying sound intensity in individuals with antisocial personality disorder and ordinary persons. Data were collected from experimental and control groups by interviews and a field research. Population was all male Iranian with antisocial personality disorder that three of them (a murderer and two individuals with antisocial personality disorder (APD) who have not committed any crimes yet) were selected purposefully. They were compared to three non-affected people. PRAAT software has been used to analyze the data. Results of this study show that there is a significant relationship between dysthymia and sound intensity values. Antisocial personality disorder also affects sound intensity fluctuations. The values of sound intensity are higher in non-affected people than affected one whilst these values are more monotonous. T-test was used to study significance or in significance of sound intensity difference in producing vowels.

Keywords: Acoustics, Sound Intensity, Antisocial Personality Disorder, Psycholinguistics

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Authors: Ju-Chun Chien

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The Ottawa Charter for Health Promotion proposed that the role of health services should shift the focus from cure to prevention. Nowadays, besides having physical examinations, people could also conduct genetic tests to provide important information for diagnosing, treating, and/or preventing illnesses. However, because of the incompletion of the Chinese Genetic Database, people in Taiwan were still unfamiliar with genetic testing. The purposes of the present study were to: (1) Figure out people’s attitudes towards genetic testing. (2) Examine factors that influence people’s intention to pursue genetic testing by means of the Health Belief Model (HBM). A pilot study was conducted on 249 Taiwanese in 2017 to test the feasibility of the self-developed instrument. The reliability and construct validity of scores on the self-developed questionnaire revealed that this HBM-based questionnaire with 40 items was a well-developed instrument. A total of 542 participants were recruited and the valid participants were 535 (99%) between the ages of 20 and 86. Descriptive statistics, one-way ANOVA, two-way contingency table analysis, Pearson’s correlation, and stepwise multiple regression analysis were used in this study. The main results were that only 32 participants (6%) had already undergone genetic testing; moreover, their attitude towards genetic testing was more positive than those who did not have the experience. Compared with people who never underwent genetic tests, those who had gone for genetic testing had higher self-efficacy, greater intention to pursue genetic testing, had academic majors in health-related fields, had chronic and genetic diseases, possessed Catastrophic Illness Cards, and all of them had heard about genetic testing. The variables that best predicted people’s intention to pursue genetic testing were cues to action, self-efficacy, and perceived benefits (the three variables all correlated with one another positively at high magnitudes). To sum up, the HBM could be effective in designing and identifying the needs and priorities of the target population to pursue genetic testing.

Keywords: genetic testing, knowledge of GT, people in Taiwan, the health belief model

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Authors: Amir Bastani

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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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Authors: M. Zyczkowski, P. Markowski, M. Karol

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The security industry is making many efforts to lower the costs of system installation. However, the dominant technique is the application of fiber optic sensors. It is necessary to determine the location of the disorder of long optical fiber cables. For a number of years, many research centers developed their own solutions. The article presents the construction of the sensor systems with the possibility of disorder location. We present a methodology for determining location of the disorder. The aim of investigations is to answer the question of which of optical sensor configuration offer the best performance for location of the disorder.

Keywords: fiber optic sensor, security sensor, fiber cables, system instillation

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Authors: Saqib Amina, Waqas Mehmoodb, Iftikhar Yasinc

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This study analyzes the robust association between ethnic violence and mental health from a global perspective (201-countries across the world) by using the panel data for the period 1970 to 2020. Mental health has been determined through various dimensions such as mental disorders, anxiety disorder, depressive disorder, schizophrenia, and bipolar disorder. The empirical findings show that ethnic violence has a significant positive association with all types of mental health indicators, including mental disorders, anxiety disorder, depressive disorder, schizophrenia, and bipolar disorder. The study also reveals that institutional quality may reduce the effect of mental health disorders in a better way than promoting democracy. This study suggests the non-stigmatizing social form of community-based support services instead of a stigmatizing the concept of mental illnesses that promotes hospitalization and drug treatment.

Keywords: ethnic violence, unemployment, mental health, violence

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Authors: Ammara Jabeen

Abstract:

This survey report aims to find the interventions and their effectiveness that are being used globally as well as in Pakistan to treat autistic kids. ‘Autism spectrum disorder (ASD) is a state associated with brain development that shows ‘how a person perceives and socializes with others, causing problems in social interaction and communication’. Besides these problems, these children suffer from restricted and repetitive behaviors too. The term ‘Spectrum’ in Autism Spectrum Disorder refers to the wide range of symptoms and severity. The main cause of this Autism Spectrum Disorder is not known yet, but the research showed that genetics and environmental factors play important roles. In this survey report, after a literature review, some of the possible solutions are suggested based on the most common problems that these children are currently facing in their daily lives. Based on this report, we are able to overcome the lack of the resources (e.g. language, cost, training etc.) that mostly exist in Pakistani culture.

Keywords: autism, interventions, spectrum, disorder

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Authors: D. Leibman, D. Wolf, A. Gal-On

Abstract:

Viral diseases of tomato crops result in heavy yield losses and may even jeopardize the production of these crops. Classical tomato breeding for disease resistance against Tomato yellow leaf curl virus (TYLCV), leads to partial resistance associated with a number of recessive genes. To author’s best knowledge Pepino mosaic virus (PepMV) genetic resistance is not yet available. The generation of viral resistance by means of genetic engineering was reported and implemented for many crops, including tomato. Transgenic resistance against viruses is based, in most cases, on Post Transcriptional Gene Silencing (PTGS), an endogenous mechanism which destroys the virus genome. In this work, we developed immunity against PepMV and TYLCV in a tomato based on a PTGS mechanism. Tomato plants were transformed with a hairpin-construct-expressed transgene-derived double-strand-RNA (tr-dsRNA). In the case of PepMV, the binary construct harbored three consecutive fragments of the replicase gene from three different PepMV strains (Italian, Spanish and American), to provide resistance against a range of virus strains. In the case of TYLCV, the binary vector included three consecutive fragments of the IR, V2 and C2 viral genes constructed in a hairpin configuration. Selected transgenic lines (T0) showed a high accumulation of transgene siRNA of 21-24 bases, and T1 transgenic lines showed complete immunity to PepMV and TYLCV. Graft inoculation displayed immunity of the transgenic scion against PepMV and TYLCV. The study presents the engineering of resistance in tomato against two serious diseases, which will help in the production of high-quality tomato. However, unfortunately, these resistant plants have not been implemented due to public ignorance and opposition against breeding by genetic engineering.

Keywords: PepMV, PTGS, TYLCV, tr-dsRNA

Procedia PDF Downloads 133

Authors: Aftab Ahmed, Ghulam Mehboob

Abstract:

The object of presentation is to highlight the importance of condition which is a very rare genetic disorder although Paget’s disease is common but its juvenile type is very rare and a late presentation due to very slow onset and lack of earlier standard management. We present a case of 25 years old male with a chronic history of bone pain and a slow onset of mild swelling, later on diagnosed as juvenile Paget disease of bone. Rarity of this condition with inaccessibility for standard health treatment can lead to a significant delay in presentation and its management. There have been 50 reported cases worldwide according to Genetic Home Reference. There is increased osteoclastic activity along with osteoblastic activity related to gene alteration and osteoprotegrin deficiency. Morbidity of disease is very significant which lead children to become immobilize.

Keywords: juvenile, Paget’s disease, bone, Northern Area of Pakistan

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Authors: Hargunjeet Shergill, Palwinder Singh

Abstract:

The present paper analyzes the lack of teachers' awareness and knowledge regarding the Attention Deficit Hyperactivity Disorder in the college students. Attention deficit hyperactivity disorder causes individuals to consistently display extreme inattention, impulsivity and in many cases hyperactivity as a result of the physiological differences of the brain. Teachers have a formative influence on their students and can play a key role in identifying and supporting students with Attention Deficit/Hyperactivity Disorder (ADHD). Despite the pervasiveness and salience of this disorder, educators at college continue to labor under a number of misconceptions about the nature of ADHD. In order to fulfill this important role, it is imperative for teachers to have explicit knowledge about this disorder. ADHD in college students remains the most under-recognized and undertreated mental health condition. The overall aim of this study is to investigate teachers’ knowledge and misconceptions of ADHD with a particular focus on recognition, assessment and management of ADHD in adult college students. It designed to assess the college teachers' knowledge, opinions, and experience related to the diagnosis of attention-deficit/hyperactivity disorder (ADHD) and by maintaining open lines of communication with the students and understanding some key elements that can affect students’ overall growth and ability. The discussion focuses on the value of the role of teachers and their relationship with each college student dealing with ADHD.

Keywords: attention deficit hyperactivity disorder, development of ADHD, diagnostic criteria, role of teachers

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Authors: Li Dan, Zhao Junsuo, Zhang Wenjun

Abstract:

Aiming at the shortcomings of the Quantum Genetic Algorithm such as the multimodal function optimization problems easily falling into the local optimum, and vulnerable to premature convergence due to no closely relationship between individuals, the paper presents an Improved Many Worlds Quantum Genetic Algorithm (IMWQGA). The paper using the concept of Many Worlds; using the derivative way of parallel worlds’ parallel evolution; putting forward the thought which updating the population according to the main body; adopting the transition methods such as parallel transition, backtracking, travel forth. In addition, the algorithm in the paper also proposes the quantum training operator and the combinatorial optimization operator as new operators of quantum genetic algorithm.

Keywords: quantum genetic algorithm, many worlds, quantum training operator, combinatorial optimization operator

Procedia PDF Downloads 742