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目的 探讨陕西人群 Rb1 .2 0位点 VNTR多态性是否与食管癌遗传易感性有关 .方法 应用 PCR方法对陕西正常个体外周血 (5 0例 )、食管癌组织 (36例 )、食管癌癌旁组织(2 7例 ) Rb基因 2 0内含子 VNTR区进行了检测 .结果 共检出 5个等位基因片段 :385 bp(A) ,370 bp(B) ,35 5 bp(C) ,330 bp(D)和 32 5 bp(E) .在正常人群中 ,其等位基因频率分别为 :A0 .31 ,B0 .1 5 ,C0 .0 7,D0 .0 5 ,E0 .42 ,杂合性为 72 % ,PIC为 0 .70 ;在食管癌癌组织中 ,其等位基因频率分别为 :A0 .1 5 ,B0 .1 7,C0 .1 7,D0 .36和 E0 .1 5 ,PIC为 0 .77;在食管癌癌旁组织中 ,其等位基因频率分别为 :A0 .1 1 ,B0 .30 ,C0 .1 1 ,D0 .43和 E0 .0 6 ,杂合性为 2 2 % ,PIC为 0 .70 .Rb1 .2 0位点 VNTR多态性在不同群体中有显著差异 .结论 推测Rb1 .2 0位点的 VNTR多态性与食管癌遗传易感性有关
Objective To investigate whether VNTR polymorphism at Rb1. 200 locus in Shaanxi population is associated with genetic susceptibility to esophageal cancer.Methods PCR products were used to detect the polymorphism of VNTR in Shaanxi normal individuals (50 cases), esophageal cancer tissues (36 cases), esophageal cancer (27 cases) Rb gene 20 intron VNTR region were detected.Results A total of 5 alleles were detected: 385 bp (A), 370 bp (B), 35 5 bp (C), 330 bp (D) and 32 5 bp (E) .In the normal population, the allele frequencies were A0.31, B0.1.5, C0.07, D0.0.5, E0.42, The coincidence was 72%, PIC was 0.70; in esophageal cancer, the allele frequency was A0.1 5, B0.1 7, C0.1 7, D0.36 and E0.1 5 , And the PIC was 0.77. In the adjacent tissues of esophageal cancer, the allele frequency was A0.1 1, B0.30, C0.1 1, D0.43 and E0.0.6 respectively. The heterozygosity was 2 2%, PIC 0.70. The VNTR polymorphism at the locus R2b was significantly different among different groups.Conclusion It is speculated that the VNTR polymorphism at Rb1. 200 is associated with genetic predisposition of esophageal cancer