Indian journal of human genetics最新文献_第8页

Phenotypic spectrum in uniparental disomy: Low incidence or lack of study? 单亲二体的表型谱:低发病率还是缺乏研究?

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120819

Arpan D Bhatt, Thomas Liehr, Sonal R Bakshi

{"title":"Phenotypic spectrum in uniparental disomy: Low incidence or lack of study?","authors":"Arpan D Bhatt, Thomas Liehr, Sonal R Bakshi","doi":"10.4103/0971-6866.120819","DOIUrl":"https://doi.org/10.4103/0971-6866.120819","url":null,"abstract":"Context: Alterations in the human chromosomal complement are expressed phenotypically ranging from (i) normal, via (ii) frequent fetal loss in otherwise normal person, to (iii) sub-clinical to severe mental retardation and dysmorphism in live births. A subtle and microscopically undetectable chromosomal alteration is uniparental disomy (UPD), which is known to be associated with distinct birth defects as per the chromosome involved and parental origin. UPD can be evident due to imprinted genes and/or activation of recessive mutations.Aims: The present study comprises of data mining of published UPD cases with a focus on associated phenotypes. The goal was to identify non-random and recurrent associations between UPD and various genetic conditions, which can possibly indicate the presence of new imprinted genes.Settings and design: Data mining was carried out using the homepage \"http://www.fish.uniklinikum-jena.de/UPD.html.\", an online catalog of published cases with UPD.Materials and methods: The UPD cases having normal karyotype and with or without clinical findings were selected to analyze the associated phenotypes for each chromosome, maternal or paternal involved in UPD.Results: Our results revealed many genetic conditions (other than the known UPD syndromes) to be associated with UPD. Even in cases of bad obstetric history as well as normal individuals chance detection of UPD has been reported.Conclusions: The role of UPD in human genetic disorders needs to be studied by involving larger cohorts of individuals with birth defects as well as normal population. The genetic conditions were scrutinized in terms of inheritance patterns; majority of these were autosomal recessive indicating the role of UPD as an underlying mechanism.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 3","pages":"311-4"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.120819","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31956298","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

Population based family history analysis of Brahmins in a small town in India for the prevalence of type-2 diabetes mellitus. 印度某小镇婆罗门人群2型糖尿病患病率家族史分析

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120826

Arun V Panat, Dilip A Kulkarni, Ravindra B Ghooi

{"title":"Population based family history analysis of Brahmins in a small town in India for the prevalence of type-2 diabetes mellitus.","authors":"Arun V Panat, Dilip A Kulkarni, Ravindra B Ghooi","doi":"10.4103/0971-6866.120826","DOIUrl":"https://doi.org/10.4103/0971-6866.120826","url":null,"abstract":"Objectives: The objective of this study is to determine the inheritance pattern of type-2 diabetes and make stratification for the general population risk.Materials and methods: A questionnaire was developed for o btaining the family history. Analysis of the data was carried out by using student and Chi-square tests and for stratification; the guidelines of Scheuner et al. were followed.Results: The pattern of inheritance is the male sex specific (χ² =13.44). The mean age of onset of diabetes in parents was 58.61 ± 2.94 and in offspring 46.75 ± 2.54. In all 47.22 ± 11.53% families were found in high risk and 31.94 ± 10.77% in the moderate risk category. In female diabetics, the onset was in the age range of 41-60 years.Conclusion: We found a high-risk of diabetes and familial clustering in successive generations of Brahmins with prominent male sex specificity. In females onset of diabetes was coinciding with the period around menopause.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 3","pages":"342-5"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.120826","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31956240","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

A case of primary amenorrhea with 46+XY genotype from Kashmir Valley. 克什米尔谷地46+XY基因型原发性闭经1例。

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120816

Shahid Mudassir Baba, Aga Syed Sameer, Mushtaq A Siddiqi

引用次数: 2

Inter and intra ethnic variation of vitamin K epoxide reductase complex and cytochrome P450 4F2 genetic polymorphisms and their prevalence in South Indian population. 南印度人群维生素K环氧化物还原酶复合物和细胞色素P450 4F2遗传多态性的种族间和种族内变异及其流行

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120817

Dhakchinamoorthi Krishna Kumar, Deepak Gopal Shewade, Sajjanavar Manjunath, Prayaga Ushakiran, Gangadharan Reneega, Chandrasekaran Adithan

{"title":"Inter and intra ethnic variation of vitamin K epoxide reductase complex and cytochrome P450 4F2 genetic polymorphisms and their prevalence in South Indian population.","authors":"Dhakchinamoorthi Krishna Kumar, Deepak Gopal Shewade, Sajjanavar Manjunath, Prayaga Ushakiran, Gangadharan Reneega, Chandrasekaran Adithan","doi":"10.4103/0971-6866.120817","DOIUrl":"https://doi.org/10.4103/0971-6866.120817","url":null,"abstract":"Background: Genetic variation in the vitamin K epoxide reductase complex (VKORC1) and cytochrome P450 4F2 (CYP4F2) genes were found to be strongly associated with the oral anticoagulant (OA) dose requirement. The distribution of genetic variation in these two genes was found to show large inter- and intra-ethnic difference.Materials and methods: A total of 470 unrelated, healthy volunteers of South Indians of either sex (age: 18-60 years) were enrolled for the study. A 5 ml of venous blood was collected and the genomic deoxyribonucleic acid (DNA) was extracted by using phenol-chloroform extraction method. Real-time quantitative polymerase chain reaction (RT-PCR) method was used for genotyping.Results: The variant allele frequencies of VKORC1 rs2359612 (T), rs8050894 (C), rs9934438 (T) and rs9923231 (A) were found to be 11.0%, 11.8%, 11.7% and 12.0%, respectively. The variant allele VKORC1 rs7294 was (80.1%) more frequent and the variant allele CYP4F2 * 3 was found to be 41.8% in South Indians. The allele, genotype and haplotype frequencies of VKORC1 and CYP4F2 gene were distinct from other compared HapMap populations (P < 0.0001).Conclusion: The findings of our study provide the basic genetic information for further pharmacogenetic based investigation of OA therapy in the population.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 3","pages":"301-10"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.120817","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31956297","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: 12

Index of opportunity for natural selection among the Gowdas of Kodagahalli village, Karnataka, India. 印度卡纳塔克邦Kodagahalli村高达人自然选择的机会指数。

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120821

Bhaboklang Sohkhlet

{"title":"Index of opportunity for natural selection among the Gowdas of Kodagahalli village, Karnataka, India.","authors":"Bhaboklang Sohkhlet","doi":"10.4103/0971-6866.120821","DOIUrl":"10.4103/0971-6866.120821","url":null,"abstract":"Background: In order to understand how selection is operating in the Gowda population, the index of opportunity for selection was calculated and the present findings were compared with some related findings from other South Indian (SI) populations.Materials and methods: Crow (1958) and the modified method by Johnston and Kensinger (1971) were used for the present purpose.Results and discussion: The index of total selection intensity (I) was found to be moderate taking into consideration the range for many Indian populations. Considering certain differences in fertility and mortality heritable, it appears that natural selection play an important role in shaping the genetic constitution of the Gowda population. Analysis of data indicates that the index due to fertility seems to contribute more towards selection than mortality. This trend might be because of better living condition and health-care system among the Gowdas which have a positive impact on the lower contribution of mortality for the evolution mechanism of the Gowda population through natural selection.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 3","pages":"315-9"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.120821","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31956299","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

No CAG repeat expansion of polymerase gamma is associated with male infertility in Tamil Nadu, South India. 聚合酶γ无CAG重复扩增与印度南部泰米尔纳德邦男性不育有关。

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120823

J Poongothai

{"title":"No CAG repeat expansion of polymerase gamma is associated with male infertility in Tamil Nadu, South India.","authors":"J Poongothai","doi":"10.4103/0971-6866.120823","DOIUrl":"https://doi.org/10.4103/0971-6866.120823","url":null,"abstract":"Mitochondria contains a single deoxyribonucleic acid (DNA) polymerase, polymerase gamma (POLG) mapped to long arm of chromosome 15 (15q25), responsible for replication and repair of mitochondrial DNA. Exon 1 of the human POLG contains CAG trinucleotide repeat, which codes for polyglutamate. Ten copies of CAG repeat were found to be uniformly high (0.88) in different ethnic groups and considered as the common allele, whereas the mutant alleles (not -10/not -10 CAG repeats) were found to be associated with oligospermia/oligoasthenospermia in male infertility. Recent data suggested the implication of POLG CAG repeat expansion in infertility, but are debated. The aim of our study was to explore whether the not -10/not -10 variant is associated with spermatogenic failure. As few study on Indian population have been conducted so far to support this view, we investigated the distribution of the POLG CAG repeats in 61 infertile men and 60 normozoospermic control Indian men of Tamil Nadu, from the same ethnic background. This analysis interestingly revealed that the homozygous wild type genotype (10/-10) was common in infertile men (77% - 47/61) and in normozoospermic control men (71.7% - 43/60). Our study failed to confirm any influence of the POLG gene polymorphism on the efficiency of the spermatogenesis. ","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 3","pages":"320-4"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.120823","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31956300","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

Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India. 血红蛋白枫丹白露[a21(B2)Ala>Pro]:来自印度的第二份报告。

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120822

Ranjeet Singh Mashon, Sona Nair, Pratibha Sawant, Roshan B Colah, Kanjaksha Ghosh, Sheila Das

引用次数: 6

Usage of U7 small nuclear ribonucleic acid in gene therapy of hemoglobin D Punjab disorder: Rationale? U7小核糖核酸在血红蛋白D旁遮普病基因治疗中的应用:理由?

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120812

Viroj Wiwanitkit

引用次数: 0

Genetic analysis of a family with complete androgen insensitivity syndrome. 完全雄激素不敏感综合征家族遗传分析。

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120820

Sunil Kumar Kota, Kotni Gayatri, Siva Krishna Kota, Sruti Jammula

引用次数: 5

Analysis of hemoglobin electrophoresis results and physicians investigative practices in Saudi Arabia. 分析血红蛋白电泳结果和医生调查实践在沙特阿拉伯。

Indian journal of human genetics Pub Date : 2013-07-01 DOI: 10.4103/0971-6866.120829

Syed Riaz Mehdi, Badr Abdullah Al Dahmash

{"title":"Analysis of hemoglobin electrophoresis results and physicians investigative practices in Saudi Arabia.","authors":"Syed Riaz Mehdi, Badr Abdullah Al Dahmash","doi":"10.4103/0971-6866.120829","DOIUrl":"https://doi.org/10.4103/0971-6866.120829","url":null,"abstract":"Background and objectives: Riyadh and central province falls in a moderate prevalent zone of hemoglobinopathies in Saudi Arabia. However, it has been observed that the physicians working in Saudi Arabia invariably advise all cases of anemia for hemoglobin electrophoresis (HE). The present work was carried out to study the yield of the HE in Riyadh and the investigative practices of the physicians advising HE.Settings and design: The study was carried out in the hospitals of King Saud University from 2009 to 2011 in order to assess the yield of HE in referred cases of clinical anemia.Materials and methods: A total of 1073 cases divided in two groups of males and females had undergone complete blood count and red blood cell morphology. Cellulose acetate HE was performed and all the positive results were reconfirmed on the high performance liquid chromatography (HPLC). The results were analyzed for the type of hemoglobinopathies. For statistical analysis Statistical Package for Social Sciences 15 version (SPSS Inc., Chicago, IL, USA) was used.Results: A total of 405 males and 668 females blood samples were included in the present study. 116 (28.5%) males and 167 (25%) females showed an abnormal pattern on HE. The incidence of beta thalassemia trait was higher in females while sickle cell trait was predominantly seen in males. Red cell indices were reduced considerably in thalassemias, but were unaffected in sickle cell disorders, except those which had concurrent alpha trait. The total yield of HE was 26.6% which was much less than expected.Conclusion: The physicians are advised to rule out iron deficiency and other common causes of anemia before investigating the cases for hemoglobinopathies, which employs time consuming and expensive tests of HE and HPLC.","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 3","pages":"337-41"},"PeriodicalIF":0.0,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.120829","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31956239","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