关键词: HUMARA基因;遗传多态;衰老

    摘 要:目的 探讨陕西人群HUMARA基因多态性分布及与衰老的相关性. 方法 应用聚合酶链反应(PCR-STR)技术先后对老年人(92例)和青年人(63例)的HUMARA基因的多态位点进行检测. 结果 在老年组中，片段大小在280～445bp之间，重复片段为(GCA)，重复次数最少22次最多77次.频率分布在0.005～0.39，高峰在300～310bp(39%)，杂合率为0.83，多态信息量(PIC)为0.76;在青年组中，片段大小在280～408bp之间，重复次数最少22次最多65次，频率分布在0.01～0.33，高峰在310～320bp(33%)，杂合率为0.90，多态信息量(PIC)为0.83.老年组基因频率分布与青年组比较，有显著性差异(P<0.01). 结论 推测该位点遗传多态与细胞的衰老有一定的相关性，值得进一步研究.

    Relationship between HUMARA gene polymorphism and aging in Shaanxi population of China

    FENG Lei SHU Qing QIN Hong-Yan LIU Jun LI Jun-Lin

    1 Department of Genetics and Growth Biology，Fac-ulty of Preclinical Medicine，Fourth Military Medi-cal University，Xi'an710033，China，

    2 Department of Cardiovasology，Tangdu Hospital，Fourth Mili-tary Medical University，Xi'an710038，China

    Keywords:HUMARA gene;polymorphism;aging

    Abstract:AIM To investigate the polymorphism of the HU-MARA gene in Shaanxi population of China and its relation-ship to aging.METHODS Polymorphism sites of the HU-MARA gene in92cases of unrelated aged people and63cases of unrelated youth in Shaanxi were detected by PCR-STR method.RESULTS The allele fragments ranged from280to445bp in the aged.The repetitive fragment was(GCA)and repetitive fraguency was22to77.The distribution of al-lele frequency was0.005to0.39.The heterozygosity rate was0.83and polymorphism information content(PIC)was0.76.The allele fragments ranged from280to408bp in the youth.The repeat number was22to65.The distribution of allele frequency was0.01to0.33.The heterozygosity rate was0.90and PIC was0.83.The distribution of polymor-phism of the HUMARA gene varied significantly between the aged and the youth(P<0.01).CONCLUSION The rela-tionship between the HUMARA gene and aging needs further study. ......