Indian journal of human genetics最新文献_第7页

Analysis of association of TaqI VDR gene polymorphism with the chronic periodontitis in Dravidian ethnicity. 达罗毗荼人TaqI VDR基因多态性与慢性牙周炎的相关性分析。

Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124377

Gurumoorthy Kaarthikeyan, N D Jayakumar, O Padmalatha, Sheeja Varghese, B Anand

引用次数: 11

Deoxyribonucleic acid damage study in primary amenorrhea by comet assay and karyotyping. 用彗星试验和核型研究原发性闭经的脱氧核糖核酸损伤。

Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124363

Sarah Ramamurthy, Parkash Chand, Latha Chaturvedula, K Ramachandra Rao

{"title":"Deoxyribonucleic acid damage study in primary amenorrhea by comet assay and karyotyping.","authors":"Sarah Ramamurthy, Parkash Chand, Latha Chaturvedula, K Ramachandra Rao","doi":"10.4103/0971-6866.124363","DOIUrl":"https://doi.org/10.4103/0971-6866.124363","url":null,"abstract":"Aim: This study aims at evaluating the chromosomal abnormalities and deoxyribonucleic acid (DNA) damage in cases with primary amenorrhea by karyotyping and comet assay.Study design: A total of 30 cases of primary amenorrhea were recruited. Secondary sexual characters were assessed by Tanner staging. Chromosomal analysis was performed by conventional phytohemagglutinin stimulated lymphocyte cell culture technique. Alkaline version of comet assay was used to evaluate DNA damage.Results: The chromosomal pattern of 20 subjects (66.7%) was found to be normal (46,XX). Two subjects had 46,XY pattern and eight subjects had Turner syndrome (45,X or 45,X/46,XX). The comet parameters were found to be increased among subjects with 45,X monosomy, when compared to the rest of the study group and also in subjects with Tanner stage 1 when compared to stage 2.Conclusion: Comet assay revealed increased DNA damage in cases with 45,X monosomy, compared with subjects with 46,XX and 46,XY karyotype, which correlated with clinical features.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"397-402"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124363","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090256","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

A rare anomaly of the foot presented as polydactyly. 罕见的畸形足表现为多指畸形。

Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124378

Vikram Jeet Singh Dhingra, Ashish Kumar, Amit Mittal, Samita Gupta, Rikki Singal, Bir Singh, Chetan Dua

引用次数: 3

Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India. 遗传性普遍色素沉着病:印度罕见的遗传性皮肤病。

Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124383

Hari Kishan Kumar Yadalla, Srivalli Pinninti, Anagha Ramesh Babu

引用次数: 12

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study. 反复流产夫妇的染色体异常:一项印度回顾性研究。

Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124369

Frenny J Sheth, Thomas Liehr, Pritti Kumari, Ralph Akinde, Harsh J Sheth, Jayesh J Sheth

{"title":"Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.","authors":"Frenny J Sheth, Thomas Liehr, Pritti Kumari, Ralph Akinde, Harsh J Sheth, Jayesh J Sheth","doi":"10.4103/0971-6866.124369","DOIUrl":"https://doi.org/10.4103/0971-6866.124369","url":null,"abstract":"Background: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages.Purpose: The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes.Materials and methods: A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G-banding and fluorescence in situ hybridization wherever necessary.Results: Chromosomal rearrangements were found in 170 individuals (3.5%). Translocations were seen in 72 (42.35%) cases. Of these, reciprocal translocations constituted 42 (24.70%) cases while Robertsonian translocations were detected in 30 (17.64%) cases. 7 (4.11%) cases were mosaic, 8 (4.70%) had small supernumerary marker chromosomes and 1 (0.6%) had an interstitial microdeletion. Nearly, 78 (1.61%) cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70%) and chromosome 9 pericentromeric variants (32.05%) were predominantly involved.Conclusions: Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"415-22"},"PeriodicalIF":0.0,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.124369","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090694","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: 52

Distribution and genotype frequency of the C1431T and pro12ala polymorphisms of the peroxisome proliferator activator receptor gamma gene in an Iranian population. 伊朗人群中过氧化物酶体增殖激活剂受体伽马基因 C1431T 和 pro12ala 多态性的分布和基因型频率。

Indian journal of human genetics Pub Date : 2013-10-01 DOI: 10.4103/0971-6866.124370

Hassan Rooki, Monir-Sadat Haerian, Pedram Azimzadeh, Mahmoud Ebrahimi, Reza Mirhafez, Gordon Ferns, Majid Ghayour-Mobarhan, Mohammad-Reza Zali

{"title":"Distribution and genotype frequency of the C1431T and pro12ala polymorphisms of the peroxisome proliferator activator receptor gamma gene in an Iranian population.","authors":"Hassan Rooki, Monir-Sadat Haerian, Pedram Azimzadeh, Mahmoud Ebrahimi, Reza Mirhafez, Gordon Ferns, Majid Ghayour-Mobarhan, Mohammad-Reza Zali","doi":"10.4103/0971-6866.124370","DOIUrl":"10.4103/0971-6866.124370","url":null,"abstract":"Background: Peroxisome proliferator activator receptor gamma (PPARγ) is a nuclear transcription factor regulating multiple genes involved in cell growth, differentiation, carbohydrate and lipid metabolism and energy production. Several genetic variations in the PPARγ gene have been identified to be associated with diabetes, obesity, dyslipidemia, insulin resistance, metabolic syndrome and coronary artery disease. The present study was designed to explore the distribution of two common single nucleotide polymorphisms of the PPARγ gene (C1431T and Pro12Ala) in an Iranian population.Materials and methods: Genotype frequencies for these two polymorphisms were compared for 160 healthy Iranian individuals with reports from other populations. The Genotyping was performed using real-time polymerase chain reaction.Results: The genotype distribution of the C1431T PPARγ polymorphism was 0.869 for the CC genotype, 0.119 for the CT genotype and 0.013 for uncommon TT genotype. Allelic frequencies were 0.93 for C and 0.07 for T allele respectively. For the Pro12Ala polymorphism of PPARγ gene, genotypic distributions and allelic frequencies were, 0.813 for CC, 0.181 for CG and 0.06 for GG and 0.903 for C and 0.097 for G respectively. Allelic and genotypic frequencies for both polymorphisms of PPARγ gene were in Hardy-Weinberg equilibrium.Conclusions: Iran is a country with an ethnically diverse population and a comparison of allelic and genotypic frequencies of PPARγ C1431T and Pro12Ala polymorphisms between our population and others showed significant differences.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"423-9"},"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/38/fe/IJHG-19-423.PMC3897137.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32090695","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

Hypoparathyroidism-retardation-dysmorphism syndrome. 甲状旁腺功能减退-发育迟缓-畸形综合征

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120814

Kalenahalli Jagadish Kumar, Halasahalli Chowdegowda Krishna Kumar, Vadambal Gopalakrishna Manjunath, Sangaraju Mamatha

引用次数: 0

An overview of gene therapy in head and neck cancer. 头颈癌基因治疗综述。

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120811

Amit Bali, Deepika Bali, Ashutosh Sharma

引用次数: 9

A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis. 一个新的ABCB11突变在伊朗女孩进行性家族性肝内胆汁淤积。

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120813

Sassan Saber, Reza Vazifehmand, Iman Bagherizadeh, Mahbubeh Kasiri

引用次数: 1

Poland syndrome a rare congenital anomaly. 波兰综合症是一种罕见的先天性异常。

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120824

Aliyu Ibrahim, Abdallah Ramatu, Akhiwu Helen

引用次数: 8