陕西人群Rb1.20位点的VNTR多态性与食管癌遗传易感性相关

探讨陕西人群Ｒｂ１．２０位点ＶＮＴＲ多态性是否与食管癌遗传易感性胶有关。方法应用ＰＣＲ方法对陕西正常个体外周血（５０例）、食管癌组织（３６例）、食管癌癌旁组织（２７例）Ｒｂ基因２０内含子ＶＮＴＲ区进行了检测。结果共检出５个等痊睛段：３８５（Ｂ），３５５ｂｐ（Ｃ），３３０ｂｐ（Ｄ）和３２５ｂｐ（Ｅ）。在正常人群中，其等痊分别为Ａ：０．３１，Ｂ０．１５，Ｃ０．０７，Ｄ０．０５，Ｅ０．４２杂合物为７２％

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

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.