雌激素受体基因单核苷酸多态性(SNP)及原发性肝癌关系.docVIP

雌激素受体基因单核苷酸多态性(SNP)及原发性肝癌关系【中图分类号】R735.7 【文献标识码】A 【文章编号】1672－3783(2012)07－0014－01 【摘要】 目的: 探讨西南地区雌激素受体基因多态性与原发性肝癌的关系。方法: 选择西南地区100名原发性肝癌患者为实验组,100名非肝病人群作为对照组。应用聚合酶链反应-限制性片段长度多态性的方法分析ERa基因1号内含子PvuⅡ、XbaⅠ多态性,ERβ基因RsaⅠ、AluⅠ多态性。观察ER基因多态性在实验组与对照组中的分布,分析各基因型、等位基因型及单倍体型特征,比较ER基因各基因型的关系。结果: 实验组ERa 基因PvuII基因型PP,Pp,pp频率与对照组相比差异有显著性(χ2=14.963,P=0.001)。实验组ppXx基因型构成比(33%)高于对照组(5%)，而PPxx、Ppxx基因型构成比（2％、22％）低于对照组（9％、38％）。RsaI和AluI限制性片段长度多态性在两组中差异有显著性。结论: ERa、ERβ基因多态性与原发性肝癌有关。X等位基因可能是其危险因素, P等位基因可能是其保护因素,R等位基因可能是其保护因素, A等位基因可能是其危险因素。ppXx基因型可能是原发性肝癌的潜在危险因素。 【关键词】: 原发性肝癌，雌激素受体，基因多态性，等位基因 THE STUDY ON THE RELATIONSHIP BETWEEN SINGLE NUCLEOTIDE POLYMORPHISMS OF THE ESTROGEN RECEPTOR GENE AND PRIMARY LIVER CANCER 【Objective】 To investigate the relationship between polymorphisms of the estrogen receptor(ER) gene and primary liver cancer in Southwest region of China. Methods: 100 primary liver cancer patients(case group) and 100 no-hepatopathy person (control group) were recruited.They all came from Southwest of China. We observe the ERa gene PvuII and XbaI and ERβ gene RsaⅠ and AluⅠpolymorphisms’ distribution in the two groups by polymerase chain reaction-restriction restriction fragment length polymorphisms. In the meantime,the genotypes、allelotypes、haplotypes characters were analysed and the ERβ gene polymorphisms were compared .Results: PP, Pp, pp genotypic frequency differences were significant (χ2=14.963,P=0.001). RFLP of PvuII and XbaI in the 2 groups are distributed with polymorphisms. ppXx genetype constituent ratio was higher in case group(33%) than cotrol group(5%)，but PPxx、Ppxx genetype constituent ratio was lower in case group（2％、22％）than cotrol group（9％、38％）. RsaI and AluI restriction fragment length polymorphism in the two groups showed significant difference.. Conclusion: ERa、ERβ gene polymorphisms is associated with primary liver cancer. “X”allele may be a dangerous factor,“P”allele may be a beneficial factor for primary liver cancer. “R”allele may be a protective f