重庆地区汉族老年人群klotho G-395A、F352V与C370S基因多态性及其组合分布  

Genotype combination distribution and frequency distribution of single nucleotide polymorphism of G-395A,F352V and C370S of klotho gene in elderly people of the Chinese Han nationality population

作　　者：田小春[1] 马厚勋[1] 刘晓林[1] 周平[1] 吴平[1] 翟福利[1] 

机构地区：[1]重庆医科大学附属第一医院老年病科,重庆400016

出　　处：《中国老年学杂志》2011年第1期1-4,共4页Chinese Journal of Gerontology

基　　金：国家自然科学基金资助项目(30672212);重庆医科大学创新基金资助项目(CX0507)

摘　　要：目的研究重庆地区汉族老年人群klotho G-395A、F352V与C370S 3个位点的单核苷酸多态性(SNP)及其等位基因频率、单倍型组合分布特征。方法利用单一等位基因特异性引物PCR技术检测klotho G-395A、F352V、C370S的SNP,应用聚类分析其基因多态性特征。结果 klotho G-395A SNP基因型分布GG、GA、AA分别为47.66%、42.58%、9.76%,G、A等位基因频率分别为68.95%、31.05%;klotho F352V SNP基因型分布FF、FV、VV分别为35.49%、59.09%、5.61%,F、V等位基因频率分别为65.04%、34.96%;klotho C370S SNP基因型分布CC CS、SS分别为37.30%、58.76%、3.88%,C、S等位基因频率分别为66.68%、33.32%。研究发现了klotho基因在3个位点的SNP前10种组合基因型分布:klothoG-395G+F352V+C370S 253例(16.92%),klotho G-395A+F352V+C370S 241例(16.12%),klotho G-395G+F352V+C370C 152例(10.17%),klotho G-395A+F352V+C370C 131例(8.76%),klotho G-395G+F352F+C370S 126例(8.43%),klotho G-395A+F352F+C370C 121例(8.09%),klotho G-395G+F352F+C370C 109例(7.29%),klotho G-395A+F352F+C370C 86例(5.75%),klotho A-395A+F352V+C370S 52例(3.48%),klotho A-395A+F352F+C370C 30例(2.01%),klotho G-395G+V352V+C370S 30例(2.01%)。结论本研究首次揭示了klotho基因的3个位点的SNP基因型组合分布特征,为进一步开展klotho基因及其表达研究提供了线索和依据。Objective To study genotype combination distribution and frequency distribution of single nucleotide polymorphisms（SNP） at 3 sites of klotho gene.Methods The SNPs of klotho G-395A,F352V and C370S were detected by single allele-specific primer（NASP）PCR.The genotypes combination distribution of SNP at 3 sites of klotho was determined by clustering analysis technique.Results The genotype frequencies of GG,GA and AA were 47.66%,42.58% and 9.76% respectively in the Klotho G-395A SNP.G and A allele haplotype frequencies of Klotho G-395A SNP were 68.95% and 31.05% respectively.The genotype frequencies of FF,FV and VV were 35.49%,59.09% and 5.61% respectively in the klotho F352V SNP.F and V allele haplotype frequencies of klotho F352V SNP were 65.04% and 34.96% respectively.The genotype frequencies of CC,CS and SS were 37.30%,58.76% and 3.88% respectively in the klotho C370S SNP.C and S allele haplotype frequencies were 66.68% and 33.32% respectively in the klotho C370S SNP.The preceding 10 combinations in the natural combination distribution of three sites of Klotho SNP were fouud as follows： The genotype combination of 253 subjects（16.92%） was klotho G-395G＋F352V＋C370S,the genotype combination of 241 subjects（16.12%） was klotho G-395A＋F352V＋C370S,the genotype combination of 152 subjects（10.17%） was klotho G-395G＋F352V＋C370C,the genotype combination of 131 subjects（8.76%） was klotho G-395A＋F352V＋C370C,the genotype combination of 126 subjects（8.43%） was klotho G-395G＋F352F＋C370S,the genotype combination of 121 subjects（8.09%） was klotho G-395A＋F352F＋C370S,the genotype combination of 109 subjects（7.29%） was klotho G-395G＋F352F＋C370C,the genotype combination of 86 subjects（5.75%） was klotho G-395A＋F352F＋C70C,the genotype combination of 52 subjects（3.48%） was klotho A-395A＋F352V＋C370S,the genotype combination of 30 subjects（2.01%） was klotho A-395A＋F352F＋C370C,the genotype combination of 30 subjects（2.01%） was klotho G-395G＋V352V

关 键 词：KLOTHO 单核苷酸多态性 组合分布 老年人 

分 类 号：R349.5[医药卫生—基础医学]