食管癌中DCC基因VNTR位点多态性研究  

Study on genetic polymorphisms of DCC gene VNTR in esophageal cancer

作　　者：秦鸿雁[1] 舒青[1] 王栋[2] 马群风[3] 

机构地区：[1]中国人民解放军第四军医大学基础部生物学教研室 [2]中国人民解放军第四军医大学图书馆 [3]中国人民解放军第四军医大学唐都医院胸外科,陕西省西安市710032

出　　处：《世界华人消化杂志》2000年第7期782-785,共4页World Chinese Journal of Digestology

基　　金：国家自然科学基金资助;No.39600126~~

摘　　要：目的探讨 DCC 基因 VNTR 位点多态性在陕西人群中的分布规律及与食管癌的遗传易感性关系.方法利用 PCR 方法对陕西正常人群个体(56例),食管癌组织(鳞癌49例).食管癌癌旁组织(34例)的 DCC 基因 VNTR位点多态性进行群体遗传学研究,并就该位点与食管癌的关系进行了关联分析.结果在陕西正常人群中 DCC 基因 VNTR 位点存在11种等位基因(A_1～A_(11)),扩增长度为167 bp～210 bp,其等位基因频率介于0.009～0.188,其中以扩增长度为205 bp(A_3),201 bp(A_4),185 bp(A_7),177 bp(A_9)较为常见,分布符合 Hardy-Weinberg 遗传平衡定律;DCC 基因 VNTR 位点在陕西正常人群中的多态信息量(PIC)为0.879,杂合度(H)为73.2%.在食管癌人群 DCC 基因 VNTR 位点中共检出10种等位基因,比正常人群少等位基因 A_2,其等位基因频率分布在0.01～0.25.癌组织与癌旁组织等位基因频率分布经比较无显著差异(x^2=3.16,P>0.05).食管癌人群 ECC 基因 VNTR 位点多态分布与正常人群有显著差异(P<0.01).其中 A_5在食管癌人群中等位基因频率明显高于正常人群,而 A_7等位基因频率则明显低于正常人群,提示 A_5和 A_7可能是食管癌易感因素.结论推测 DCC 基因 VNTR 位点多态性的改变可能在食管癌的形成中起重要作用,该位点多态性与食管癌的遗传易感性相关.AIM To observe the distribution pattern of genetic polymorphisms of DCC gene VNTR in Shannxi people,and its possible association with the susceptibility of esophageal cancer. METHODS Polymorphisms of DCC gene VNTR was studied by PCR in 56 unrelated individuals and 49 esophageal cancer samples (squamous cell carcinomas) and 34 pericancerous non-tumor samples in Shannxi people. RESULTS There were 11 alleles ranging from 167 bp to 210bp in all normal subjects.The allele frequencies ranged from 0.009 to 0.188,and allele A_3,A_4,A_7 and A_9 were more frequent.Its distribution was consistent with the law of Hardy-Weinberg balance.The polymorphism information contents(PIC) of DCC gene VNTR was 0.879, and the heterozygosity (H) was 73.2% in the controls. Ten alleles were found in esophageal cancer groups. Compared to the allele fragment of the control group, there was not allele A_2 in tumor groups.The distribution of their allele frequency ranged from 0.01 to 0.25.The distribution of allele frequency between esophageal cancer group and pericancerous non-tumor group was not significantly different (x^2=3.16,P>0.05).The allele frequency of DCC gene VNTR polymorphism in esophageal cancer groups was significantly different from that of control group (P<0.01),and that of A5 in esophageal cancer groups was significantly higher than that in control group,however the allele frequency of A_7 was significantly lower than that in normal group,suggesting that allele A_5 and A_7 may be a susceptible factor for esophageal cancer. CONCLUSION Polymorphism of DCC gene VNTR appears to play an important role in the pathogenesis of esophageal cancer,there is an association between DCC gene VNTR polymorphism and esophageal cancer susceptibility.

关 键 词：DCC基因 VNTR 食管肿瘤 易感性 

分 类 号：R735.1[医药卫生—肿瘤]