Indian journal of human genetics最新文献

{"title":"Insertion-deletions burden in copy number polymorphisms of the Tibetan population.","authors":"Avinash M Veerappa,&nbsp;Sangeetha Vishweswaraiah,&nbsp;Kusuma Lingaiah,&nbsp;N Megha Murthy,&nbsp;Raviraj V Suresh,&nbsp;Keshava Belur,&nbsp;Nallur B Ramachandra,&nbsp;Tejaswini,&nbsp;Niveditha B Patel,&nbsp;P K Supriya Gowda","doi":"10.4103/0971-6866.142888","DOIUrl":"https://doi.org/10.4103/0971-6866.142888","url":null,"abstract":"<p><strong>Background: </strong>Many studies have been conducted to identify either insertions-deletions (inDels) or copy number variations (CNVs) in humans, but few studies have been conducted to identify both of these forms coexisting in the same region.</p><p><strong>Aims and objectives: </strong>To map the functionally significant sites within human genes that are likely to influence human traits and diseases.</p><p><strong>Materials and methods: </strong>In this report, we describe an inDel map in the 1051 Tibetan CNV regions obtained through CNV genotyping using Affymetrix Genome-wide single nucleotide polymorphism 6.0 chip. InDel polymorphisms in these copy number polymorphism regions were identified with a computational approach using the 2500 deoxyribonucleic acid sequences obtained from the 1000 Genome Project.</p><p><strong>Results: </strong>The study identified a total of 95935 inDels that range from 1 bp to several bps in length which were found scattered across regulatory regions, exons and in introns of genes underlying the CNVs. A study on the distribution of inDels revealed that the majority of inDels were found in coding regions of the genome than the noncoding, while within the genes, inDels in intron regions were more followed by exonic regions and finally the regulatory regions.</p><p><strong>Conclusion: </strong>Study of inDels in CNV regions contribute to the enhanced understanding of the role played by the two variations and their collective influence on the genome. Further, a collection of these inDel genetic markers will aid in genetic mapping, further understanding of the phenotypic variability, identification of disease genes and in detecting novel CNVs.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"166-74"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142888","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation.","authors":"Suwansh Sukhadeorao Meshram,&nbsp;Sheetal Nikose,&nbsp;Shraddha Jain,&nbsp;Amar Taksande","doi":"10.4103/0971-6866.142899","DOIUrl":"https://doi.org/10.4103/0971-6866.142899","url":null,"abstract":"<p><p>We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"189-91"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142899","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methylenetetrahydrofolatereductase C677T polymorphism and folate metabolism in human health.","authors":"Babu Rao Vundinti","doi":"10.4103/0971-6866.142840","DOIUrl":"https://doi.org/10.4103/0971-6866.142840","url":null,"abstract":"Folate is an essential B vitamin that provides one-carbon molecules for DNA synthesis, protein synthesis, and methylation of DNA and proteins. The folate pathway plays a critical role in cellular function and human development, as evidenced by the association between maternal folic acid intake and the risk of neural tube defects, cardiovascular disease, and cancer.[1] Both nutrient status and genetic background are independent but interacting risk factors for these disorders. However, the biochemical and developmental mechanisms that lead to pathology or the mechanisms whereby folate prevents the occurrence and recurrence of these disorders are unknown. The methylenetetrahydrofolatereductase (MTHFR) gene (677C → T) is a common polymorphism which results in reduced MTHFR enzyme activity that leads to reduced capacity to remethylate homocysteine and generate S-adenosyl methionine and hypomethylated lymphocytic DNA. Two studies in this issue found no association of MTHFR C677T polymorphism with the disease condition. Pandey et al.[2] studied MTHFR 677CT polymorphism in craniosynostosis and found no association with the disease. The other study in this issue found no association of MTHFR 677CT polymorphism in Down syndrome (DS) children, however, it was linked to clinical severity such as low IQ.[3] In general, maternal folate metabolism associated with fetal disease condition. Several studies were carried out on maternal MTHFR 677CT polymorphism and nondisjunction of trisomy 21. James et al.[4] were the first to suggest a role of the folate pathway in chromosome 21 nondisjunction as the major cause of DS. They showed that the C677T polymorphism associated biochemical changes in folate pathway metabolites in mothers, were associated with a 2.6-fold increased chance of having a child with trisomy 21. Some subsequent studies examining the relationship between maternal folate metabolism and delivering a child with DS found no link with genetic variants in single folate pathway genes, whereas others pointed to an additive effect with variants in multiple genes.[5] Since maternal folic acid supplementation can modify the effect of genetic variants in the folate pathway, a lack of maternal folic acid supplementation is a potential risk factor for chromosome 21 nondisjunction. The studies on intake of folic acid and risk of DS are contradictory. The research groups observed a significantly reduced association between trisomy 21 and maternal folic acid supplement intake three or more times a week at least 1 week before conception. It was hypothesized that the environmental factors, like maternal exposure to folic acid, may influence chromosome segregation at different times during oocyte development. In females, the formation of oocytes is initiated during fetal life and is not completed until decades later. Meiosis I (MI) begins at around 12 weeks of gestation in the mother’s fetal life, at which time chromosomes replicate, and homologs pair and undergo rec","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"99-100"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142840","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32817556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex).","authors":"Suresh R S Mandrekar,&nbsp;Sangeeta Amoncar,&nbsp;Siddhartha Banaulikar,&nbsp;Vishal Sawant,&nbsp;R G W Pinto","doi":"10.4103/0971-6866.142906","DOIUrl":"https://doi.org/10.4103/0971-6866.142906","url":null,"abstract":"<p><p>OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"195-8"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142906","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetics in psychiatry.","authors":"Shreekantiah Umesh,&nbsp;Shamshul Haque Nizamie","doi":"10.4103/0971-6866.142845","DOIUrl":"https://doi.org/10.4103/0971-6866.142845","url":null,"abstract":"<p><p>Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion that genetics would aid in the development of new medications to treat these disabling illnesses. This review therefore emphasizes on the basics of genetics in psychiatry as well as focuses on the emerging picture of genetics in psychiatry and their future implications. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"120-8"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142845","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mammalian non-classical major histocompatibility complex I and its receptors: Important contexts of gene, evolution, and immunity.","authors":"B M Pratheek,&nbsp;Tapas K Nayak,&nbsp;Subhransu S Sahoo,&nbsp;Prafulla K Mohanty,&nbsp;Soma Chattopadhyay,&nbsp;Ntiya G Chakraborty,&nbsp;Subhasis Chattopadhyay","doi":"10.4103/0971-6866.142855","DOIUrl":"https://doi.org/10.4103/0971-6866.142855","url":null,"abstract":"<p><p>The evolutionary conserved, less-polymorphic, nonclassical major histocompatibility complex (MHC) class I molecules: Qa-1 and its human homologue human leukocyte antigen-E (HLA-E) along with HLA-F, G and H cross-talk with the T-cell receptors and also interact with natural killer T-cells and other lymphocytes. Moreover, these nonclassical MHC molecules are known to interact with CD94/NKG2 heterodimeric receptors to induce immune responses and immune regulations. This dual role of Qa-1/HLA-E in terms of innate and adaptive immunity makes them more interesting. This review highlights the new updates of the mammalian nonclassical MHC-I molecules in terms of their gene organization, evolutionary perspective and their role in immunity. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"129-41"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142855","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.","authors":"Rajeev Kumar Pandey,&nbsp;Abid Ali,&nbsp;Amit Singh,&nbsp;Sukanya Gayan,&nbsp;Minu Bajpai","doi":"10.4103/0971-6866.142882","DOIUrl":"https://doi.org/10.4103/0971-6866.142882","url":null,"abstract":"<p><strong>Background: </strong>677C to T allele in the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of various syndromes and nonsyndromic diseases but till date no direct studies have been reported with craniosynostosis.</p><p><strong>Objectives: </strong>The aim was to study the family-based association of MTHFR polymorphism in different categories of craniosynostosis patients.</p><p><strong>Materials and methods: </strong>This was a cross-sectional study in which 30 patients classified as Apert syndrome, Pfeiffr syndrome and nonsyndromic craniosynostosis patients with their family were recruited. A sample of 3 ml intravenous blood was taken from patients and from their family members (father and mother) in ethylenediaminetetraacetic acid-anticoagulated vacutainer for the purpose of the study. Genomic DNA was extracted from peripheral blood lymphocytes by phenol chloroform extraction method. Primers for MTHFR gene were designed. The polymerase chain reaction was carried out. After successful amplification, a small aliquot (5 μl) of the MTHFR reaction mixture was treated with 1 units of Hinf I restriction enzyme (NEB). Results were obtained and compiled.</p><p><strong>Results: </strong>A total of 30 patients/participants with craniosynostosis of Indian descent and their parents formed the study group. The genotyping did not confirm an association between the MTHFR 677C to T polymorphism and between different categories of craniosynostosis. When comparing the offspring of mothers statistically significant differences were found.</p><p><strong>Conclusion: </strong>C667T polymorphism of the MTHFR gene is unlikely to play a role in the pathogenesis of craniosynostosis though maternal MTHFR C677T polymorphism may be a genetic risk factor.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"155-9"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142882","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Constitutional mismatch repair deficiency syndrome: Do we know it?","authors":"C Ramachandra,&nbsp;Vasu Reddy Challa,&nbsp;Rachan Shetty","doi":"10.4103/0971-6866.142902","DOIUrl":"https://doi.org/10.4103/0971-6866.142902","url":null,"abstract":"<p><p>Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"192-4"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142902","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR(®) Identifiler™ kit in a Bhil Tribe Population from Gujarat state, India.","authors":"Ramesh R Chaudhari,&nbsp;M S Dahiya","doi":"10.4103/0971-6866.142879","DOIUrl":"https://doi.org/10.4103/0971-6866.142879","url":null,"abstract":"<p><strong>Materials and methods: </strong>The genetic diversity and forensic parameters based on 15 autosomal short tandem repeats (STR) loci; D8S1179,D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317,D16S539, D2S1338, D19S433, vWA, TPOX, D18S51,D5S818, and FGA in AmpFLSTR® Identifiler™ kit from Applied Biosystems, Foster City, CA, USA were evaluated in saliva samples of 297 unrelated individuals from the Bhil Tribe population of Gujarat state, India to study genetic diversities and relatedness of this population with other national and international populations.</p><p><strong>Results: </strong>Statistical analysis of the data revealed all loci were within Hardy-Weinberg Equilibrium expectations with the exception of the locus vWA (0.019) and locus D18S51 (0.016). The neighbour joining phylogeny tree and Principal Co-ordinate Analysis plot constructed based on Fst distances from autosomal STRs allele frequencies of the present study and other national as well as international populations show clustering of all the South Asian populations in one branch of the tree, while Middle Eastern and African populations cluster in a separate branch.</p><p><strong>Conclusion: </strong>Our findings reveal strong genetic affinities seen between the Indo-European (IE) speaking Bhil Tribe of Gujarat and Dravidian groups of South India.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"148-52"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142879","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ectopia cilia with pedigree analysis: Second case report in the world.","authors":"Tarang Goyal,&nbsp;Anupam Varshney,&nbsp;S K Bakshi","doi":"10.4103/0971-6866.142897","DOIUrl":"https://doi.org/10.4103/0971-6866.142897","url":null,"abstract":"<p><p>We present a case of ectopia cilia in a 28-year-old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient's maternal grandfather also had ectopia cilia of the left upper eyelid as reported by the patient's mother. Ectopia cilia is a rare condition seen in humans. Only 12 cases of ectopic cilia in humans have been reported so far in the world. The present case of ectopia cilia is the second case report in the world with pedigree analysis. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"185-6"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142897","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}