陕西省老年人群Rb基因的多态性研究  

A study of polymorphism of Rb (intron 17,20) in the aged

作　　者：郑强荪[1] 舒青[2] 刘军[1] 张宁[2] 张宁仔[1] 

机构地区：[1]第四军医大学附属唐都医院心脏内科,西安市710038 [2]第四军医大学附属唐都医院医学遗传教研室,西安市710038

出　　处：《中华老年医学杂志》2000年第5期351-353,共3页Chinese Journal of Geriatrics

基　　金：国家自然科学基金资助项目!( 3 960 0 12 6;3 970 0 165 )

摘　　要：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 of Rb (intron 17,20) in the aged population and its relationship to the aging. Methods Polymorphism of Rb gene (intron 17) was examined in 100 cases of unrelated aged people and 52 cases of unrelated youth by PCR. Polymorphism of Rb gene (intron 20) was examined in 68 cases of unrelated aged people and 56 cases of unrelated youth by PCR. 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 youth. The gene frequency was A 0 43, B 0 57, showing statistically significant difference in more than 300 bp fragment between the aged and the youth (P<0 001). (2) Eighteen fragments of alleles of Rb gene (intron 20) locus, ranging from 260 390 bp were found in the aged, with the heterozygosity rate being 0 68 and PIC 0 85. Distribution 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 mutates, but polymorphism of Rb gene (intron 20) locus is characteristic in the old people. The relation between Rb gene (intron 20) and ageing needs further study.

关 键 词：RB基因 多态性 视网膜母细胞瘤 老年人 肿瘤 

分 类 号：R394[医药卫生—医学遗传学]