BRCA1基因启动子区SNPs与散发性乳腺癌易感性的相关研究(英文)  

Research on Relation between SNPsin BRCA1 Gene PromoterRegion and Sporadic Breast Cancer Susceptibilit

作　　者：郑玲莉[1] 吴琍[2] 曹伟红[2] 陈庆峰[2] 

机构地区：[1]青岛大学医学院,山东青岛266100 [2]青岛大学医学院附属医院乳腺外科,山东青岛266100

出　　处：《现代生物医学进展》2011年第1期12-17,共6页Progress in Modern Biomedicine

基　　金：General Program of National Natural Science Foundation of Shandong.the item number:(2009ZRB14999)~~

摘　　要：目的:探讨BRCA1基因启动子区rs11655505、rs73625095位点单核苷酸多态性与散发性乳腺癌易感性的关系。方法:采用ASA-PCR方法对200例乳腺癌患者(均经病理确诊)及200例正常女性BRCA1基因启动子区rs11655505(A/G)、rs73625095(A/G)位点单核苷酸多态性(SNP)进行分析,并将其PCR产物进行测序。结果:乳腺癌患者BRCA1基因启动子区rs11655505位点的A/G基因型频率为75%,显著高于正常人的40%;A/A基因型频率为7%,G/G基因型频率为18%,分别低于正常人的30%、30%。此位点的A或G等位基因在乳腺癌病例组及对照组中均无差别(x2=2.427,P=0.119);rs73625095位点的A/G基因型频率为68%,显著高于正常人的15%;G/G基因型频率为32%,低于正常人的84%;乳腺癌病例组中BRCA1基因启动子区rs11655505、rs73625095位点的A/G基因型与淋巴结转移与否相比,差别均有统计学意义(x2=7.321,P=0.026、x2=4.782,P=0.029)。结论:BRCA1基因rs11655505位点、rs73625095位点的A/G基因型可能与散发性乳腺癌的发生相关,而且与有无发生淋巴结转移密切相关。rs73625095位点A和G等位基因可能为散发性乳腺癌发生的遗传危险因素。Objective： To investigate the relationship between rs11655505 and rs73625095 SNPs of BRCA1 gene promoter region and the susceptibility of sporadic breast cancer.Methods： ASA-PCR method was used to analyze the rs11655505（A/G）,rs73625095（A/G）SNPs of BRCA1 gene promoter region in 200 patients with breast cancer（all confirmed diagnosis） and nomal women,and their PCR products were all sequenced.Results： The A/G genotype frequency of BRCA1 gene promoter region rs11655505 site of patients with breast cancer（75%）was higher than that of the nomal person（40%）;The A/A genotype frequency（7%）and the G/G genotype fre-quency（18%）were both lower than that of the nomal person（30%）;There was no difference in the A or G alleles in this site between the cases and the controls（x2=2.427,P=0.119）.The A/G genotype frequency in rs73625095 site of patients with breast cancer（68%）was higher than that of the nomal person（15%）,while the G/G genotype frequency（32%）was lower than that of the nomal person（84%）;Comparing the A and the G alleles between the cases and the controls,it showed statistically significant differences（x2=80.107,P=0.000）;According to further analysis of the cases,there was statistically significant differences comparing A/G genotype in BRCA1 gene promoter region rs11655505,rs73625095 sites and lymph node metastases or not.（x2=7.321,P=0.026,x2=4.782,P=0.029）.Conclusions： A/G genotype in BRCA1 gene promoter region rs11655505,rs73625095 sites may have relationship with the sporadic breast cancer and lymph node metastases.A and G alleles may be the dangerous genetic factors of the sporadic breast cancer.

关 键 词：散发性乳腺癌 BRCA1基因 单核苷酸多态性 ASA-PCR 基因型 

分 类 号：R737.9[医药卫生—肿瘤]