人类MMP3基因2号外显子Lys45Glu单核苷酸多态性与乳腺癌易感性的关系  

Association of the Single Nucleotide Polymorphism rs679620 in Exon 2 in Metalloproteinase-3 Gene with Susceptibility to Breast Cancer

作　　者：李劲[1] 高雯琪[1] 邓志芳[1] 胡文娟[1] 欧阳刚[1] 刘莹[1] 王朝元[1] 姚品芳[2] 

机构地区：[1]中南民族大学生命科学学院,武汉430074 [2]湖北省肿瘤医院,武汉430079

出　　处：《中南民族大学学报（自然科学版）》2011年第2期38-41,共4页Journal of South-Central University for Nationalities：Natural Science Edition

基　　金：国家民委自然科学基金资助项目(07ZN09);中南民族大学自然科学基金资助项目(HZY10012)

摘　　要：讨论了基质金属蛋白酶3(MMP3)基因单核苷酸多态性(SNP)与湖北省武汉市人群乳腺癌易感性的关联关系.选择MMP3基因2号外显子Lys45Glu单核苷酸多态性rs679620作为研究对象,采用聚合酶链式反应限制性片段长度多态性分析方法(PCR-RFLP)对195例散发乳腺癌病人和289例正常人群进行了病例-对照分析,运用SHEsis软件和SPSS软件分别计算Hardy-Weinberg数值以及对基因分型数据进行统计分析后表明:MMP3 rs679620(A/G)单核苷酸多态性各个基因型在病例组和对照组分布符合Hardy-Weinberg平衡,A等位基因在病例组中频率(P=0.331)小于对照组(P=0.360),可能为保护因素,但病例和对照的差异不具有统计学意义.在中国武汉地区汉族女性中,MMP3多态性与乳腺癌没有明显关联,但呈现一定的趋势,需加大样本量和增加考察的SNP数量进行深入研究.The single nucleotide polymorphism（SNP） of matrix metalloproteinase 3（MMP3） gene,rs679620（Lys45Glu）,in the exon 2 was investigated for its genetic association with breast cancer.The site was genotyped by the PCR-RFLP analysis for the peripheral blood samples,including 195 breast cancer people and 289 normal people from Wuhan.The result of genotype and Hardy-Weinberg,analysed by SPSS and SHEsis,show that the genotype frequencies at rs679620 in the case and control groups were consistent with Hardy-Weinberg equilibrium.The frequency（P=0.331）of A allele in case group is less than thatin control group（P=0.360）,which indicates no significant difference between these two group（P0.05）.The SNP rs679620 selected from MMP3 gene had apparently susceptibility for the breast cancer in Wuhan populations.Howerver,the result indicates A allele might be safety a factor.More SNP sites in MMP-3 should be selected and the samples mass should be increased for breast cancer.

关 键 词：基质金属蛋白酶3 单核苷酸多态性 乳腺癌 遗传易感性 

分 类 号：Q343.15[生物学—遗传学]