陕西人群Rb1.20位点的VNTR多态性与食管癌遗传易感性相关

Relationship between Rb1.20 VNTR polymorphism and esophageal cancer susceptibility in Shaanxi population

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

AIM To test polymorphism of Rb 1.20 VNTR in the population of Shaanxi and discuss the relation between polymorphism of Rb 1.20 locus and esophageal cancer susceptibility. METHODS Polymorphism of Rb 1.20 VNTR in 50 normal unrelated individuals and 36 esophageal cancer samples and 27 pericancerous non tumor samples in Shaanxi were detected by PCR method. RESULTS Five alletic fragments were detected: 385 bp (A), 370 bp (B), 355 bp (C), 330 bp (D) and 325 bp (E). In normal individuals, allele frequencies were A 0.31, B 0.15, C 0.07, D 0.05 and E 0.42, heterozygosity being 72% and polymorphism information contents (PIC) 0.70. In esophageal cancer tissues, allele frequencies were A 0.15, B 0.17, C 0.17, D 0.36 and E 0.15, PIC being 0.77. In pericancerous non tumor tissues, allele frequencies were A 0.11, B 0.30, C 0.11, D 0.43 and E 0.06, heterozygosity being 22.2% and PIC 0.70. Remarkable differences were found in the polymorphisms of Rb 1.20 VNTR in different segments of the population. CONCLUSION There should be some relation between polymorphism of Rb 1.20 VNTR and esoplageal cancer susceptibility.