【摘要】 目的 探讨老年人群Rb基因内含子17、20的多态性分布及该位点与衰老的相关性。 方法 应用聚合酶链反应(PCR)技术先后对老年人（100例）和青年人（52例）的Rb基因17内含子位 点及对老年人（68例）和青年人（56例）的Rb基因20内含子位点进行检测。 结果 在老年组中，Rb基因17内含子位点共检测出2个等位基因片段:945 bp(A)及630+315 bp(B),基因型频率：A/A 0.20,A/B 0.45,B/B 0.35,等位基因频率：A 0.43，B 0.57；与青年组基因型频率差异无显著性意义。在老年组中，Rb基因20内含子位点共检测出18个等位基因片段，片段大小在260～390 bp之间,杂合率为0.68，多态信息量(PIC)为0.85，其基因频率与青年组比较，差异有显著性(P＜0.001)。老年组基因分布高峰在2 90 bp(35.3%)，青年组在300 bp(29.5%)。部分片段差异有显著性意义。 结论 Rb基因17内含子位点的多态性较稳定，不易发生突变。老年组Rb基因20内含子的位点多态性与青年组比较差异有显著性意义，是否该位点遗传标记与细胞的衰老有一定的相关性，值得进一步研究。 A study of polymorphism of Rb (intron 17,20) in the aged
ZHENG Qiangsun SHU Qing LIU Jun, et al.
（Department of Cardiology，Tangdu Hospital, Fourth Military Medical University, Xi an 710038,China）
【Abstract】 Objective To investigate the polymorphism of Rb (intron 17, 20) in the aged population and its relationship to the aging. Methods Polymorp hism of Rb gene (intron 17) was examined in 100 cases of unrelated aged people a n d 52 cases of unrelated youth by PCR. Polymorphism of Rb gene (intron 20) was ex a mined in 68 cases of unrelated aged people and 56 cases of unrelated youth by PC R. Results (1) Two fragments of alleles (945 bp, 630 bp+315 bp) of Rb gene (intron17 ) were found in old population, with genotype frequency being A/A 0.20, A/B 0.45, B/B 0.35, showing no significant difference between the aged and the yo u th . The gene frequency was A 0.43, B 0.57, showing statistically significant d if ference in more than 300 bp fragment between the aged and the youth (P＜0.0 01). (2) Eighteen fragments of alleles of Rb gene (intron 20) locus, ranging from 260-3 90 bp we re found in the aged, with the heterozygosity rate being 0.68 and PIC 0.85. Di st ribution of genetic polymorphism of Rb gene (intron 20) VNTR were significantly different between the aged and the youth. Conclusions Polymorphism of Rb (intron 17) is relatively stable and rarely m
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