{"title":"Fok I VDR多态性在结核病风险评估中的作用对印度中部人口的研究","authors":"M. Tiwari , M.K. Verma , P.K. Singh , D. Bharti","doi":"10.1016/j.mgene.2021.100896","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><p>Study aim to investigate the possible role of <em>Fok</em> I VDR polymorphism in TB risk assessment.</p></div><div><h3>Methods</h3><p>To investigate the role of Fok I VDR polymorphism in TB risk assessment, we collected a blood sample from 106 healthy individuals including both gender. The genomic DNA was isolated and the VDR gene was amplified using gene-specific primers using polymerase chain reaction. The Genotyping of the <em>Fok</em> I polymorphism was performed using Fok I restriction enzyme. The distribution of genotype frequencies of VDR gene polymorphisms was calculated using Hardy-Weinberg equilibrium calculator.</p></div><div><h3>Results</h3><p>In the present investigation, the VDR gene was amplified with an undigested DNA band of 265 bp as FF homozygote. Additionally, 169 bp and 96 bp as ff homozygote and three bands ((265 bp, 169 bp, and 96 bp) were observed in the heterozygote. As per our finding, we report a significantly low frequency of susceptible genotypes in Ff (27.4%) and ff (6.6%) compared to average frequency Ff = 41.80% and ff = 8.25% of India. We also reported here the low frequency of mutant allele f in India's central part, i.e., Bhopal division, Madhya Pradesh. Considering our finding, the mutant allele's low frequency in central India, Madhya Pradesh, shows a negligible contribution of <em>Fok</em> I VDR polymorphism in TB prevalence.</p></div><div><h3>Conclusions</h3><p>In a comparative analysis with the Northern and Southern India population based on previous reports, the involvement of FoK I polymorphism in the VDR gene was non-significant in Central India. All the studied populations were found in Hardy-Weinberg equilibrium except North India for the Fok1 VDR genotypes.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"29 ","pages":"Article 100896"},"PeriodicalIF":0.8000,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100896","citationCount":"0","resultStr":"{\"title\":\"Role of Fok I VDR polymorphism in TB risk assessment; A Study in Central India population\",\"authors\":\"M. Tiwari , M.K. Verma , P.K. Singh , D. Bharti\",\"doi\":\"10.1016/j.mgene.2021.100896\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Purpose</h3><p>Study aim to investigate the possible role of <em>Fok</em> I VDR polymorphism in TB risk assessment.</p></div><div><h3>Methods</h3><p>To investigate the role of Fok I VDR polymorphism in TB risk assessment, we collected a blood sample from 106 healthy individuals including both gender. The genomic DNA was isolated and the VDR gene was amplified using gene-specific primers using polymerase chain reaction. The Genotyping of the <em>Fok</em> I polymorphism was performed using Fok I restriction enzyme. The distribution of genotype frequencies of VDR gene polymorphisms was calculated using Hardy-Weinberg equilibrium calculator.</p></div><div><h3>Results</h3><p>In the present investigation, the VDR gene was amplified with an undigested DNA band of 265 bp as FF homozygote. Additionally, 169 bp and 96 bp as ff homozygote and three bands ((265 bp, 169 bp, and 96 bp) were observed in the heterozygote. As per our finding, we report a significantly low frequency of susceptible genotypes in Ff (27.4%) and ff (6.6%) compared to average frequency Ff = 41.80% and ff = 8.25% of India. We also reported here the low frequency of mutant allele f in India's central part, i.e., Bhopal division, Madhya Pradesh. Considering our finding, the mutant allele's low frequency in central India, Madhya Pradesh, shows a negligible contribution of <em>Fok</em> I VDR polymorphism in TB prevalence.</p></div><div><h3>Conclusions</h3><p>In a comparative analysis with the Northern and Southern India population based on previous reports, the involvement of FoK I polymorphism in the VDR gene was non-significant in Central India. All the studied populations were found in Hardy-Weinberg equilibrium except North India for the Fok1 VDR genotypes.</p></div>\",\"PeriodicalId\":38190,\"journal\":{\"name\":\"Meta Gene\",\"volume\":\"29 \",\"pages\":\"Article 100896\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2021-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.mgene.2021.100896\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Meta Gene\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214540021000475\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Meta Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214540021000475","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
目的探讨Fok I VDR多态性在结核病风险评估中的可能作用。方法为了研究Fok I VDR多态性在结核病风险评估中的作用,我们采集了106例健康人群(包括男女)的血液样本。分离基因组DNA,利用基因特异性引物聚合酶链反应扩增VDR基因。利用霍克1限制性内切酶对霍克1多态性进行基因分型。利用Hardy-Weinberg平衡计算器计算VDR基因多态性的基因型频率分布。结果VDR基因扩增得到一条265 bp的未消化DNA带,为FF纯合子。纯合子为169 bp和96 bp,杂合子为265 bp、169 bp和96 bp三个条带。根据我们的发现,我们报告了Ff(27.4%)和Ff(6.6%)的易感基因型频率显著低于印度的平均频率Ff = 41.80%和Ff = 8.25%。我们还报道了印度中部,即中央邦博帕尔地区突变等位基因的低频率。考虑到我们的发现,突变等位基因在印度中部中央邦的低频率表明,Fok I VDR多态性对结核病患病率的贡献可以忽略不计。结论在以往报道的基础上,通过与印度北部和南部人群的比较分析,发现FoK I多态性与VDR基因的关系在印度中部地区不显著。除印度北部的Fok1 VDR基因型外,所有研究群体均处于Hardy-Weinberg平衡状态。
Role of Fok I VDR polymorphism in TB risk assessment; A Study in Central India population
Purpose
Study aim to investigate the possible role of Fok I VDR polymorphism in TB risk assessment.
Methods
To investigate the role of Fok I VDR polymorphism in TB risk assessment, we collected a blood sample from 106 healthy individuals including both gender. The genomic DNA was isolated and the VDR gene was amplified using gene-specific primers using polymerase chain reaction. The Genotyping of the Fok I polymorphism was performed using Fok I restriction enzyme. The distribution of genotype frequencies of VDR gene polymorphisms was calculated using Hardy-Weinberg equilibrium calculator.
Results
In the present investigation, the VDR gene was amplified with an undigested DNA band of 265 bp as FF homozygote. Additionally, 169 bp and 96 bp as ff homozygote and three bands ((265 bp, 169 bp, and 96 bp) were observed in the heterozygote. As per our finding, we report a significantly low frequency of susceptible genotypes in Ff (27.4%) and ff (6.6%) compared to average frequency Ff = 41.80% and ff = 8.25% of India. We also reported here the low frequency of mutant allele f in India's central part, i.e., Bhopal division, Madhya Pradesh. Considering our finding, the mutant allele's low frequency in central India, Madhya Pradesh, shows a negligible contribution of Fok I VDR polymorphism in TB prevalence.
Conclusions
In a comparative analysis with the Northern and Southern India population based on previous reports, the involvement of FoK I polymorphism in the VDR gene was non-significant in Central India. All the studied populations were found in Hardy-Weinberg equilibrium except North India for the Fok1 VDR genotypes.
Meta GeneBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍:
Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.