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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.
Objective To investigate the distribution of VNTR locus polymorphism of DCC gene in Shaanxi population and the genetic susceptibility to esophageal cancer.Methods PCR was used to detect the association between the polymorphism of VNTR locus and the susceptibility to esophageal cancer in 56 normal controls, .Considering the genetic polymorphisms of the VNTR locus in the adjacent tissues of esophageal cancer (34 cases), the association between the locus and the esophageal cancer was analyzed.Results In the normal population of Shaanxi province, the VNTR locus There were 11 alleles (A_1 ~ A_ (11)) with a length of 167 bp ~ 210 bp and a allele frequency of 0.009 ~ 0.188 with a length of 205 bp (A_3), 201 The distributions of bp (A_4), 185 bp (A_7) and 177 bp (A_9) were more common, which were in accordance with the Hardy-Weinberg law of genetic balance. The polymorphism information content (PIC) of VNTR locus in DCC gene in Shaanxi normal population was 0.879, The coincidence (H) was 73.2% .There were 10 alleles in the VNTR locus of the DCC gene in esophageal cancer patients, less allele A_2 than the normal population, and the allele frequencies were between 0.01 and 0.25. There was no significant difference in allele frequency distribution between adjacent tissues (x ~ 2 = 3.16, P> 0.05) The polymorphism distribution of VNTR locus in CC gene was significantly different from that in normal population (P <0.01). The allele frequency of A_5 in esophageal cancer was significantly higher than that in normal population, while the frequency of A_7 allele was significantly lower than that in normal population A_5 and A_7 may be the predisposing factors for esophageal cancer.Conclusion It is speculated that the change of the polymorphism of VNTR locus in DCC gene may play an important role in the formation of esophageal cancer.The polymorphism of this locus is associated with the genetic predisposition of esophageal cancer.