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目的 探讨老年人群Rb基因内含子 17、2 0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 (10 0例 )和青年人 (5 2例 )的Rb基因 17内含子位点及对老年人 (6 8例 )和青年人 (5 6例 )的Rb基因 2 0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 :945bp(A)及 6 30 +315bp(B) ,基因型频率 :A/A0 2 0 ,A/B 0 45 ,B/B 0 35 ,等位基因频率 :A 0 43,B 0 5 7;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 2 0内含子位点共检测出 18个等位基因片段 ,片段大小在 2 6 0～ 390bp之间 ,杂合率为 0 6 8,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 0 0 1)。老年组基因分布高峰在 2 90bp(35 3% ) ,青年组在 30 0bp(2 9 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 2 0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。
Objective To investigate the polymorphism distribution of Rb gene inpatients and senility in elderly population. Methods The Rb gene 17 intron locus in elderly (50 cases) and young people (52 cases) were detected by polymerase chain reaction (PCR) 6 cases) Rb gene 20 intron sites were detected. Results In the aged group, two alleles were detected in intron 17 of Rb gene: 945bp (A) and 630 + 315bp (B). The genotype frequencies were A / A020, A / B 0 45, B / B 0 35, allele frequency: A 0 43, B 0 5 7; There was no significant difference with genotype frequency of youth group. In the elderly group, 18 alleles were detected in 20 intron sites of Rb gene. The fragment size ranged from 260 to 390 bp, the heterozygosity rate was 0.68, and the polymorphic information content (PIC) Was 0 85, the gene frequency compared with the youth group, the difference was significant (P <0 0 0 1). In the elderly group, the peak of the gene distribution was at 2 90 bp (35 3%) and in the youth group 30 0 bp (2 5 5%). Some fragments have significant differences. Conclusion The polymorphism of Rb gene intron 17 is stable and not prone to mutation. The locus polymorphism of Rb gene 20 in the elderly group was significantly different from that of the young group. Whether genetic markers of this locus had a certain correlation with cell senescence deserved further study.