Indian journal of human genetics最新文献

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Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development. 印度46,xy性发育障碍患者丝裂原活化蛋白激酶1基因突变分析。
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124372
Dhanjit Kumar Das, Subodh G Rahate, Bhakti P Mehta, Harshavardhan M Gawde, Parag M Tamhankar
{"title":"Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development.","authors":"Dhanjit Kumar Das,&nbsp;Subodh G Rahate,&nbsp;Bhakti P Mehta,&nbsp;Harshavardhan M Gawde,&nbsp;Parag M Tamhankar","doi":"10.4103/0971-6866.124372","DOIUrl":"https://doi.org/10.4103/0971-6866.124372","url":null,"abstract":"<p><strong>Background: </strong>Determination of sex is the result of cascade of molecular events that cause undifferentiated bipotential gonad to develop as a testis or an ovary. A series of genes such as SRY, steroidogenic factor-1 (SF1), AR, SRD5 α, Desert hedgehog (DHH) etc., have been reported to have a significant role in development of sex in the fetus and secondary sexual characteristics at the time of puberty. Recently, mitogen activated protein kinase kinase kinase 1 (MAP3K1) gene was found to be associated with 46, XY disorders of sex development (DSD).</p><p><strong>Aim: </strong>The present study is focused to identify mutations in MAP3K1 gene in the cohort of 10 Indian patients with 46,XY DSD including one family with two affected sisters. These patients were already screened for SRY, SF1 and DHH gene, but no mutation was observed in any of these genes.</p><p><strong>Materials and methods: </strong>The entire coding regions of MAP3K1 were amplified and sequenced using the gene specific primers.</p><p><strong>Results and discussions: </strong>Sequence analysis of MAP3K1 gene has revealed four variants including one missense, two silent and one deletion mutation. The missense mutation p.D806N was observed in four patients with hypospadias. Two patients showed the presence of silent mutation p.Q1028Q present in exon 14. Another silent mutation p.T428T was observed in a patient with gonadal dysgenesis. We have also observed one deletion mutation p. 942insT present in two patients. The pathogenicity of the missense mutation p.D806N was carried out using in-silico approach. Sequence homology analysis has revealed that the aspartate at 806 was found to be well-conserved across species, indicated the importance of this residue. The score for polyphen analysis of this mutation was found to be 0.999 indicating to be pathogenic mutation. Since, p.D806N mutation was found to be important residue; it might contribute to sexual development. We have reported the presence of mutations/polymorphism in MAP3K1 gene. All the mutations were found to be polymorphism upon comparing to single nucleotide polymorphism database. However, in-silico analysis of the missense mutation revealed to be a pathogenic mutation.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"437-42"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124372","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090697","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}
引用次数: 22
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. 伊朗西部高苯丙氨酸血症病例中四氢生物蝶呤缺乏症和多环芳烃基因缺乏症变异的比例
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124375
Keyvan Moradi, Reza Alibakhshi, Shohreh Khatami
{"title":"The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran.","authors":"Keyvan Moradi,&nbsp;Reza Alibakhshi,&nbsp;Shohreh Khatami","doi":"10.4103/0971-6866.124375","DOIUrl":"https://doi.org/10.4103/0971-6866.124375","url":null,"abstract":"<p><strong>Background: </strong>Defects either in phenylalanine hydroxylase (PheOH) or in the production and recycling of its cofactor (tetrahydrobiopterin [BH4]) are the causes of primary hyperphenylalaninemia (HPA). The aim of our study was to investigate the current status of different variants of HPA Kurdish patients in Kermanshah province, Iran.</p><p><strong>Materials and methods: </strong>From 33 cases enrolled in our study, 32 were identified as HPA patients. Reassessing of pre-treatment phenylalanine concentrations and the analysis of urinary pterins was done by high-performance liquid chromatography method.</p><p><strong>Results: </strong>A total of 30 patients showed PAH deficiency and two patients were diagnosed with BH4 deficiency (BH4/HPA ratio = 6.25%). Both of these two BH4-deficient patients were assigned to severe variant of dihydropteridine reductase (DHPR) deficiency. More than 75% of patients with PAH deficiency classified as classic phenylketonuria (PKU) according their levels of pre-treatment phenylalanine concentrations.</p><p><strong>Conclusion: </strong>Based on the performed study, we think that the frequency of milder forms of PKU is higher than those was estimated before and/or our findings here. Furthermore, the frequency of DHPR deficiency seems to be relatively high in our province. Since the clinical symptoms of DHPR deficiency are confusingly similar to that of classic PKU and its prognosis are much worse than classical PKU and cannot be solely treated with the PKU regime, our pilot study support that it is crucial to set up screening for BH4 deficiency, along with PAH deficiency, among all HPA patients diagnosed with HPA.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"454-8"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124375","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090700","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}
引用次数: 8
Epigenetics in the nervous system: An overview of its essential role. 神经系统的表观遗传学:对其基本作用的概述。
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124357
Bhavya Ravi, Manoj Kannan
{"title":"Epigenetics in the nervous system: An overview of its essential role.","authors":"Bhavya Ravi,&nbsp;Manoj Kannan","doi":"10.4103/0971-6866.124357","DOIUrl":"https://doi.org/10.4103/0971-6866.124357","url":null,"abstract":"<p><p>The role that epigenetic mechanisms play in phenomena such as cellular differentiation during embryonic development, X chromosome inactivation, and cancers is well-characterized. Epigenetic mechanisms have been implicated to be the mediators of several functions in the nervous system such as in neuronal-glial differentiation, adult neurogenesis, the modulation of neural behavior and neural plasticity, and also in higher brain functions like cognition and memory. Its particular role in explaining the importance of early life/social experiences on adult behavioral patterns has caught the attention of scientists and has spawned the exciting new field of behavioral epigenetics which may hold the key to explaining many complex behavioral paradigms. Epigenetic deregulation is known to be central in the etiology of several neuropsychiatric disorders which underscore the importance of understanding these mechanisms more thoroughly to elucidate novel and effective therapeutic approaches. In this review we present an overview of the findings which point to the essential role played by epigenetics in the vertebrate nervous system. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"384-91"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124357","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090254","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}
引用次数: 14
Deoxyribonucleic acid repair gene X-ray repair cross-complementing group 1 polymorphisms and non-carcinogenic disease risk in different populations: A meta-analysis. 脱氧核糖核酸修复基因x射线修复交叉互补1组多态性与不同人群的非致癌疾病风险:一项荟萃分析
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124385
Bagher Larijani, Javad Mohammadi Asl, Abbas Keshtkar, Najmaldin Saki, Fatemeh Ardeshir Larijani, Fakher Rahim
{"title":"Deoxyribonucleic acid repair gene X-ray repair cross-complementing group 1 polymorphisms and non-carcinogenic disease risk in different populations: A meta-analysis.","authors":"Bagher Larijani,&nbsp;Javad Mohammadi Asl,&nbsp;Abbas Keshtkar,&nbsp;Najmaldin Saki,&nbsp;Fatemeh Ardeshir Larijani,&nbsp;Fakher Rahim","doi":"10.4103/0971-6866.124385","DOIUrl":"https://doi.org/10.4103/0971-6866.124385","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to assess a meta-analysis of the association of X-ray repair cross-complementing group 1 (XRCC1) polymorphisms with the risk of various non-carcinogenic diseases in different population.</p><p><strong>Materials and methods: </strong>This meta-analysis was performed by critically reviewing reveals 38 studies involving 10043 cases and 11037 controls. Among all the eligible studies, 14 focused on Arg194Trp polymorphism, 33 described the Arg399Gln and three articles investigated on Arg280His. Populations were divided into three different ethnic subgroups include Caucasians, Asians and other (Turkish and Iranian).</p><p><strong>Results: </strong>Pooled results showed no correlation between Arg194Trp and non-carcinogenic disease. There was only weak relation in the recessive (odds ratio [OR] =1.11, 95% confidence interval [CI]: 0.86-1.44) model in Asian population and dominant (OR = 1.04, 95% CI: 0.66-1.63) model of other populations. In Arg399Gln polymorphism, there was no relation with diseases of interest generally. In the pooled analysis, there were weak relation in the dominant (OR = 1.08, 95% CI: 0.86-1.35) model of Asian population and quite well-correlation with recessive (OR = 1.49, 95% CI: 1.19-1.88), dominant (OR = 1.23, 95% CI: 0.94-1.62), and additive (OR = 1.23, 95% CI: 0.94-1.62) models of other subgroup. For Arg280His, there was a weak relation only in the dominant model (OR = 1.06, 95% CI: 0.74-1.51).</p><p><strong>Conclusion: </strong>The present meta-analysis correspondingly shows that Arg399Gln variant to be associated with increased non-carcinogenic diseases risk through dominant and recessive modes among Iranian and Turkish population. It also suggests a trend of dominant and recessive effect of Arg280His variant in all population and its possible protective effect on non-carcinogenic diseases.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"494-511"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124385","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090560","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}
引用次数: 1
Deoxyribonucleic acid profiling in forensic dental identification. 法医牙科鉴定中的脱氧核糖核酸谱分析。
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124387
Thorakkal Shamim
{"title":"Deoxyribonucleic acid profiling in forensic dental identification.","authors":"Thorakkal Shamim","doi":"10.4103/0971-6866.124387","DOIUrl":"https://doi.org/10.4103/0971-6866.124387","url":null,"abstract":"Sir, Forensic odontology is that specialty of dentistry, which deals with the proper handling and examination of dental evidence and the proper evaluation and presentation of dental findings in legal interest.[1] When conventional dental identification methods fail, deoxyribonucleic acid (DNA) material from teeth can provide the necessary link to prove identity.[2] Teeth represent an excellent source of DNA material because of the resistant nature of dental tissues to environmental assaults such as incineration, immersion, trauma, mutilation and decomposition. The neurovascular tissue that is confined within the pulp cavity is thought to be the best source of DNA. The coronal pulp chamber, odontoblastic processes, cellular cementum and radicular canals are the target areas of the teeth from which DNA can be extracted.[1] The relative size of the dental pulp will vary in individual classes of teeth and molars are the better sources of pulpal DNA than incisors. The root body is the region with the greatest yield of DNA followed by crown body, root tip and the crown tip. DNA recovered from the teeth of an unidentified individual can be compared with a known ante mortem sample or to a parent or sibling.[3] The ante mortem sample may be stored blood, hair brush, clothing, cervical smear and biopsy. The principal laboratory methods used to compare and to evaluate fragments of DNA material from a suspect or victim are restriction fragment length polymorphism and polymerase chain reaction analyses.[1] The method currently preferred to extract as much high quality DNA as possible is a method called cryogenic grinding.[4] This technique involves cooling the whole tooth to extremely low temperatures using liquid nitrogen and then mechanically grinding to a fine powder. The major disadvantage of this method is that the tooth needs to be completely crushed. Other common techniques, which have been executed to isolate and recover DNA from human teeth include horizontal section, vertical split and conventional endodontic access.[4] Horizontal sections through the interface between the crown and root will allow the investigator to study both the radicular and coronal pulp morphology. Vertical split technique allows convenient access to the entire length of the pulp chamber. The main drawback of the conventional endodontic access is the disruption of the occlusal surface of the tooth and the inability to predict the thoroughness of pulp debridement. In the present scenario, DNA evidence can be used in hand with dental evidence. When the dental pattern of an unidentified individual and the suspected victim are the same, forensic DNA testing should be attempted.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"513"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124387","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090562","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}
引用次数: 4
Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis. 芳香酶过量综合征表现为青春期前男性乳房发育症的埃及儿童1型神经纤维瘤病。
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124379
Kotb Abbass Metwalley, Hekma Saad Farghaly
{"title":"Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis.","authors":"Kotb Abbass Metwalley,&nbsp;Hekma Saad Farghaly","doi":"10.4103/0971-6866.124379","DOIUrl":"https://doi.org/10.4103/0971-6866.124379","url":null,"abstract":"<p><p>A romatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by prepubertal gynecomastia, it responds well to medical treatment. In the absence of prompt suspicion, it can expose the patient to the risk of unnecessary surgical intervention. Up to our best knowledge, the association between AEXS and neurofibromatosis type 1 (NF1) was not reported before. Here, we describe a AEXS presenting with prepubertal gynecomastia in an Egyptian child with NF1 that improved with aromatase inhibitors. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"472-4"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124379","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090635","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}
引用次数: 9
Influenza A H1N1 hemagglutinin and human axon guidance proteins: Peptide sharing but not same epitopes. 甲型H1N1流感血凝素和人类轴突引导蛋白:肽共享但不相同的表位。
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124386
Somsri Wiwanitkit, Viroj Wiwanitkit
{"title":"Influenza A H1N1 hemagglutinin and human axon guidance proteins: Peptide sharing but not same epitopes.","authors":"Somsri Wiwanitkit,&nbsp;Viroj Wiwanitkit","doi":"10.4103/0971-6866.124386","DOIUrl":"https://doi.org/10.4103/0971-6866.124386","url":null,"abstract":"Sir, There are some recent report mentioning the common pathobiological process between influenza virus infection and schizophrenia. Landreau et al., studied on “effects of two commonly found strains of influenza A virus on developing dopaminergic neurons, in relation to the pathophysiology of schizophrenia”.[1] Landreau et al., proposed for possible similar “common specific mechanism” between influenza infection and schizophrenia.[1] Recently, Lucchese et al., examined “influenza A H1N1 hemagglutinin (HA), an antigenic viral protein, for amino acid sequence similarity to a random library of 188 axon guidance proteins” and found sharing peptide.[2] Lucchese et al., proposed that “immune cross‐reactivity between influenza HA and axon guidance molecules” might be the explanation to support the theory of co‐pathophysiology between influenza and schizophrenia. However, it should be noted that having common sharing peptide does not means sharing function. To approve that there is a cross‐immunity that leads to development of schizophrenia in patients experiencing influenza infection, the study on immunogenicity of the influenza HA and axon guidance molecule is needed. Here, the authors tried using bioinformatics technique (standard technique as described in previous studied)[3,4] to access the epitope part within influenza HA and axon guidance molecules. Of interest, the result shows that the parts of molecules with highest epitope property in influenza HA and axon guidance molecules is not the same. Hence, to conclude that there is a cross‐immunity leading common pathophysiology process between influenza infection and schizophrenia has been supported by further scientific evidences. Here, it is does not support that theory.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"512"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124386","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090561","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}
引用次数: 2
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. 成纤维细胞生长因子受体1和成纤维细胞生长因子受体2基因在印度人群颅缝闭闭中的突变鉴定。
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124374
Rajeev Kumar Pandey, Minu Bajpai, Abid Ali, Sukanya Gayan, Amit Singh
{"title":"Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.","authors":"Rajeev Kumar Pandey,&nbsp;Minu Bajpai,&nbsp;Abid Ali,&nbsp;Sukanya Gayan,&nbsp;Amit Singh","doi":"10.4103/0971-6866.124374","DOIUrl":"https://doi.org/10.4103/0971-6866.124374","url":null,"abstract":"<p><strong>Objective: </strong>The Objective of this study was to identify the association of mutation of fibroblast growth factor receptor 1 (FGFR1), FGFR2 genes with syndromic as well as non-syndromic craniosynostosis in Indian population.</p><p><strong>Materials and methods: </strong>Retrospective analysis of our records from January 2008 to December 2012 was done. A total of 41 cases satisfying the inclusion criteria and 51 controls were taken for the study. A total volume of 3 ml blood from the patient as well as parents was taken. Deoxyribonucleic acid extracted using phenol chloroform extraction method followed by polymerase chain reaction-restriction fragment length polymorphism method.</p><p><strong>Results: </strong>There were 33 (80.4%) non-syndromic cases of craniosynostosis while 8 (19.5%) were syndromic. Out of these 8 syndromic cases, 4 were Apert syndrome, 3 were Crouzon syndrome and 1 Pfeiffer syndrome. Phenotypically the most common non-syndromic craniosynostosis was scaphocephaly (19, 57.7%) followed by plagiocephaly in (14, 42.3%). FGFR1 mutation (Pro252Arg) was seen in 1 (2.4%) case of non-syndromic craniosynostosis while no association was noted either with FGFR1 or with FGFR2 mutation in syndromic cases. None of the control group showed any mutation.</p><p><strong>Conclusion: </strong>Our study proposed that FGFR1, FGFR2 mutation, which confers predisposition to craniosynostosis does not exist in Indian population when compared to the western world.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"449-53"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124374","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090699","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}
引用次数: 4
Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children. 唐氏综合症患儿母亲亚甲基四氢叶酸还原酶677 C-T多态性的流行
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124368
Anupam Kaur, Amandeep Kaur
{"title":"Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children.","authors":"Anupam Kaur,&nbsp;Amandeep Kaur","doi":"10.4103/0971-6866.124368","DOIUrl":"https://doi.org/10.4103/0971-6866.124368","url":null,"abstract":"<p><strong>Introduction: </strong>The relationship between chromosomal non-disjunction leading to aneuploidy and folate metabolism has drawn attention in the recent years. In this study, we examined the polymorphism in the gene encoding the folate metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR), namely, 677 C-T in women having Down syndrome (DS) children.</p><p><strong>Materials and methods: </strong>The prevalence of these variant genotypes (MTHFR 677 C-T polymorphism) in women having DS children (case mothers) (n = 110) was compared with controls (n = 111) from Punjab. Genotyping was done using the polymerase chain reaction method followed by restriction fragment length polymorphism.</p><p><strong>Results: </strong>In the present study, 1.8% of case mothers had TT genotype while none of the control mothers showed this genotype. T allele frequency among cases was 0.13 and 0.11 in controls. The Chi-square value showed a non-significant difference between cases and controls.</p><p><strong>Conclusion: </strong>No association has been observed between 677 C-T polymorphism and risk of non-disjunction in case mothers. Detection of polymorphisms in more genes of folate pathway is required to find out the exact cause of non-disjunction.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"412-4"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124368","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090693","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}
引用次数: 14
Msx1 Gene Variant - its Association in Isolated Hypodontia: A Case Control Genetic study!!! Msx1 基因变异--与孤立性牙齿发育不全的关系:病例对照遗传学研究
Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124376
Naveen Admala Reddy, Gopinath Adusumilli, Raghu Devanna, Rohra G Mayur, Saravanan Pichai, Sharmila Arujnan
{"title":"Msx1 Gene Variant - its Association in Isolated Hypodontia: A Case Control Genetic study!!!","authors":"Naveen Admala Reddy, Gopinath Adusumilli, Raghu Devanna, Rohra G Mayur, Saravanan Pichai, Sharmila Arujnan","doi":"10.4103/0971-6866.124376","DOIUrl":"10.4103/0971-6866.124376","url":null,"abstract":"<p><strong>Introduction: </strong>Non-syndromic tooth agenesis is a congenital anomaly with significant medical, psychological, and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes.</p><p><strong>Aim of the study: </strong>The aim of this study was to test whether MSX1 671 T > C gene variant was involved in etiology of non-syndromic tooth agenesis in Raichur patients.</p><p><strong>Materials and methods: </strong>Blood samples were collected with informed consent from 50 subjects having non-syndromic tooth agenesis and 50 controls. Genomic deoxyribonucleic acid (DNA) was extracted from the blood samples, polymerase chain reaction (PCR) was performed, and restriction fragment length polymorphism (RFLP) was performed for digestion products that were evaluated.</p><p><strong>Results: </strong>The results showed positive correlation between MSX1671 T > C gene variant and non-syndromic tooth agenesis in Raichur patients.</p><p><strong>Conclusion: </strong>MSX1 671 T > C gene variant may be a good screening marker for non-syndromic tooth agenesis in Raichur patients.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"459-64"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/0d/IJHG-19-459.PMC3897143.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090632","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}
引用次数: 0
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