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目的:研究芳香烃受体(AHR)基因两个多态性位点:G_(1712)A(R_(554)K)和G_(1768)A(V_(57S)Ⅰ),在中国人群中的分布频率及与膀胱癌易感性的关系.方法:我们建立了基于等位基因特异性PCR(Allele-Specific PCR,AS-PCR)的基因型鉴定方法,并对三组人群进行了基因型鉴定:一个作为对照的本地正常人群,一个有膀胱癌致癌剂联苯胺职业暴露史的膀胱癌病人组,和一个无明显芳香胺类物质接触史的膀胱癌病人组.结果:我们在本地区正常人群中没有发现G_(1768)位点的多态性;在对照人群中,G_(1721)多态性位点的基因型分布频率与已报道的一个高加索人群有显著差异(P<0.01);该多态性位点在不同性别中的分布差异不显著(P=0.54).在所研究的三个人群中,其基因型分布频率相近.结论:AHR基因G_(1768)位点在上海地区的人群中表现为野生型单态性;G_(1721)A多态性基因型分布在该人群和高加索人群中有显著差异;在该地区人群中,G_(1721)位点的多态性并不是构成致膀胱癌的危险因子.
OBJECTIVE: To study the polymorphisms of aromatic hydrocarbon receptor (AHR) gene: G 1712 A 555 K and G 1768 V 57S I in Chinese population Distribution frequency and the relationship with the susceptibility to bladder cancer.Methods: We established a genotypic identification method based on Allele-Specific PCR (AS-PCR) and genotyped three groups: A control group of local normal people, a group of bladder cancer patients with history of bladder cancer carcinogen benzidine exposure, and a group of bladder cancer patients with no history of exposure to aromatic amines.Results: In the normal population No polymorphism was detected in G_ (1768) loci. The genotype frequency of G_ (1721) polymorphism in control population was significantly different from that reported in a Caucasian population (P <0.01) The distribution of polymorphic loci in different genders was not significantly different (P = 0.54) .Among the three populations studied, the frequency of genotype distribution was similar.Conclusion: The population of G1768 loci in AHR gene in Shanghai In the wild-type single-sex; G_ (1721) A polymorphism genotype distribution in this population and the Caucasian population were significantly different ; Population in the region, polymorphism G_ (1721) sites not constitute a danger factor of bladder cancer.