广西巴马长寿老人的长寿相关线粒体基因组研究

摘要

目的 探讨人类线粒体基因与广西巴马长寿的关联性.方法 对广西巴马96岁以上的20个老人外周血液中线粒体全序列进行测定,并与标准剑桥参考序列(Cambridge reference sequence,CRS)比对确定7个候选线粒体基因单核苷酸多态位点.用586名无亲缘关系的健康人群血样作为对照.并进一步用限制性片段长度多态性方法对候选基因进行检验.结果 线粒体DNA(mitochondrial DNA,mtDNA)4824A/G位点突变率在长寿和健康正常对照群体不同年龄段之间,随年龄增加突变频率逐渐提高,且对照人群样本突变率明显高于长寿人群,差异具有统计学意义.结论 mtDNA4824位点不仅是衰老相关位点,也是长寿负相关位点.%Objective To investigate the human mitochondrial DNA (mtDNA) variations associated with longevity in Bama elderly population from Guangxi. Methods Mitochondrial genome of 20 individuals over 96 years of age was sequenced, and seven target single nucleotide polymorphism(SNPs) were observed by comparing with the standard rCRS sequence, and two were tested by polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) method in a larger population including 208 individuals of 90-113 years old, and 586 unrelated control individuals from Guangxi. Results The 4824G frequency of the mtDNA4824A/G locus increased with age both in the long-lived elderly and in controls.And it was significantly higher in controls than that in long-lived population (P＜0.05). Conclusion The mtDNA4824 A/G is not only an age-related locus, its mutation is also negatively correlated with longevity.