海南人群长寿相关基因位点的筛查与鉴定

项目名称： 海南人群长寿相关基因位点的筛查与鉴定

项目编号： No.31460290

项目类型： 地区科学基金项目

立项/批准年度： 2015

项目学科： 生物科学

项目作者： 蔡望伟

作者单位： 海南医学院

项目金额： 53万元

中文摘要： 海南是我国百岁老人密度最大的省份，百岁老人的人口密度为13.22人/10万人，被称为长寿岛。为了了解海南人群长寿的相关遗传因素，我们拟选择海南长寿老人及随机选择的对照个体作为研究对象，先用自定义芯片在汉族人群中筛查分析覆盖9个相关通路中72个基因的标签SNP位点，研究这些SNPs与长寿的关联性，然后根据初筛结果再扩大样本量，用TaqMan探针和重测序技术在海南两个民族（汉、黎）人群中对初步筛选基因和位点进行独立样本验证,最后再根据验证结果，在新的汉族、黎族独立人群中对关联位点上下游序列进行重测序研究，寻找长寿相关的遗传位点，并对关联基因的SNPs进行单倍型分析，了解关联基因SNPs的单倍型与长寿的关联性。本课题的研究结果将是国内长寿相关基因位点鉴定和长寿遗传学机制理论的重要补充，为阐明长寿的相关分子遗传机制提供有价值的科学依据。

中文关键词： 长寿；遗传；单核苷酸多态性；衰老；关联分析

英文摘要： Hainan is the province of highest centenarian density which is about 13.22/100,000, and is known as longevity island. In order to investigate the genetic alleles related to longevity in Hainan population, we select longevity population and control population from Hainan as the study cases. First, we used custom chip to analyse tag SNPs in 72 genes from nine related pathway to analyze the association of the SNPs with longevity in Han population. And then we enlarge the sample size based on the first screen results and validate the association of the SNPs with longevity both independently in the Han and Li populations by using TaqMan and resequencing techniques. Finally, based on the validated results, resequencing is used to analyse the upstream and downstream sequences of the associated alleles in newly independent Han and Li populations to validate the association of the alleles with longevity. The haplotypes of the SNPs in the associated genes will be analyse to study the association of the haplotypes with longevity. The study will provide the supplementary results of the longevity related alleles and longevity genetic mechanism in Chinese population. The results will also be helpful to elucidate the relevant molecular genetic mechanism of longevity.

英文关键词： longevity;Genetics;Single nucleotide polymorphism;Ageing;Association studies