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宫颈癌候选抑癌基因的单核苷酸多态性

Single Nucleotide Polymorphisms of Human BLACPGene and Their Correlation with Cervical Carcinoma
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摘要 目的 :检测人膀胱癌相关蛋白 (BLACP)基因调控区的单核苷酸多态性 (SNP)及其基因型在宫颈癌高发区———湖北省五峰县土家族人群中的分布情况 ,并分析其不同基因型与原发性宫颈癌的相关性。方法 :采用病例 对照研究方法及动态等位基因杂交 (DASH)技术 ,对 30例原发性宫颈癌患者和 6 0例正常人BLACP基因调控区的 2个单核苷酸多态性 (SNP)位点进行检测。结果 :位于BLACP基因下游调控区的SNPrs3795 14 7位点存在AA、AC和CC 3种基因型 ,且与宫颈癌发病存在显著相关性 ,其中基因型CC和AC的相对危险度分别为 33.333和 3.76 1;位于BLACP基因上游调控区的SNPrs3795 14 8位点存在CC、CT和TT3种基因型 ,但其等位基因型频率和等位基因频率在宫颈癌患者与正常人群之间无明显差异。结论 :BLACP基因上SNP位点型别的不同 ,可能导致了个体对宫颈癌的易感性不同。 Objective: To investigate the relationship between two single nucleotide polymorphisms (SNPs) within Homo sapiens bladder cancer associated protein (BLACP) gene and cervical carcinoma. Methods: These two single nucleotide polymorphisms (SNPs) within BLACP gene were studied in this experiment, by means of dynamic allele specific hybridization (DASH) in 30 unrelated case subjects and 60 control subjects which matched to the cervical carcinoma cases in age and residence. Results: Significant results were obtained for one SNP site (rs3795147), which was located at 711bp down-stream of BLACP gene. SNP rs3795147 had three kinds of genotype: AA, AC and CC. The relative risk of genotype CC was 33.333 and that of genotype AC was 3.761 . Conclusion: The result has proved again that BLACP gene may play a certain role in the development of cervical carcinoma, for the SNP site rs3795147 may have influence on the expression of BLACP gene.
作者 魏芸 伍欣星
出处 《武汉大学学报(医学版)》 CAS 2004年第5期485-488,共4页 Medical Journal of Wuhan University
关键词 单核苷酸多态性 人膀胱癌相关蛋白基因 宫颈癌 single nucleotide polymorphisms Homo sapiens bladder cancer associated protein gene cervical carcinoma
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