宫颈癌高发人群BLCAP基因单核苷酸多态性检测  

An Investigation of Polymorphism in Human BLCAP Gene and their Correlation with Cervical Carcinoma

作　　者：张力[1] 刘娟[1] 伍欣星[1] 

机构地区：[1]武汉大学医学院病毒学研究所分子病毒学研究,室武汉430071

出　　处：《武汉大学学报（医学版）》2005年第4期435-438,共4页Medical Journal of Wuhan University

摘　　要：目的:检测人膀胱癌相关蛋白(BLCAP)基因编码区及调控区的单核苷酸多态性(SNPs),并初步探讨其可能对人BLCAP基因功能的影响以及与宫颈癌发病易感性的关系。方法:采用病例对照研究、直接测序及动态等位基因杂交(DASH)技术检测该基因的7个SNP位点其中包括调控区5个、编码区2个,以确定人群中BLCAP基因SNP的类型。结果:位于BLCAP基因下游调控区的SNPrs3795147位点基因型频率和等位基因频率在癌症组和正常对照组间差异有显著性,其中基因型AA和AC的相对危险度分别为33.333和3.761。结论:BLCAP基因可能与宫颈癌发生的易感性密切相关。Objective: To identify the single nucleotide polymorphisms (SNPs) in the regulatory and coding regions of homo sapiens bladder cancer associated protein gene (BLCAP) and to assess their potential effect on the function of BLCAP. Methods: Seven SNPs were identified by the means of sequencing and dynamic allele specific hybridization (DASH) in 30 unrelated case subjects and 60 control subjects that matched to the cervical carcinoma cases in age and residence. Among them, five were in regulatory region and two in coding region. Results: One SNP site (rs3795147) that was located in the down-stream of BLCAP gene has three kinds of genotype as AA, AC and CC. The relative risk of genotype AA was 33.333 and that of genotype AC was 3.761. Conclusion: BLCAP gene may play a certain role in the development of cervical carcinoma, for the SNP site rs3795147 may influence on the expression of BLCAP gene.

关 键 词：人膀胱癌相关蛋白 单核苷酸多态性 宫颈癌 

分 类 号：R737.33[医药卫生—肿瘤]