中国乳腺癌患者BRCA1基因突变的研究  

Analysis of mutation sites of BRCA1 gene in Chinese patients with breast cancer

作　　者：柯玉雄[1] 王旭芬[2] 丰美光 卫灿东[1] 姜正文[1] 金力[1] 卢大儒[1] 

机构地区：[1]复旦大学生命科学学院遗传工程国家重点实验室,上海200433 [2]江苏省常州第一医院乳房外科

出　　处：《中华医学遗传学杂志》2002年第5期383-385,共3页Chinese Journal of Medical Genetics

摘　　要：目的　在中国乳腺癌患者 BRCA1基因外显子 2、2 0和 11部分序列中寻找突变位点 ,探讨其与乳腺癌发病的关系。方法收集 86例无血缘关系的乳腺癌患者 ,用聚合酶链反应 -双链四色荧光标记的方法 ,分析 BRCA1基因的外显子 2和 2 0的全长序列和外显子 11的部分序列。结果　外显子 2、2 0和 11的序列中均未发现有突变 ,仅在外显子 11A的序列上有一个 C/ T多态 ,基因型频率高达 4 2 %。对这个高频单核苷酸多态 (single nucleotide ploymorphism,SNP)位点 ,先作了 Hardy- Weinberg检测 ,P>0 .0 5 ,确定这个 SNP的频率不受杂合性缺失的影响。再进行 χ2检测 ,与正常对照组进行比较 ,P>0 .1,两者差异无显著性。结论　这个高频 SNP位点与乳腺癌的发生无显著相关 ;在中国人群中没有发现其他乳腺癌患者人群中普遍存在的这几个突变热点 ,说明外显子 2、2 0和 11上的这部分序列对中国人群的乳腺癌发生影响不大。Objective: To detect the mutation sites of exons 2, 20, 11A and 11B in Chinese patients with breast cancer. Methods: A total of 86 patients with breast cancer without blood relationship were randomly selected. Polymerase chain reaction (PCR) and double-strand DNA direct sequencing were applied. Results: No mutations, especially deletions were found in exons 2, 20 and 11 with carefully checking the sequencing results, although they were reported frequently in Europe populations with breast cancer. We found one polymorphism in exon 11, with high frequency, and in the test of X2, the frequencies of two alleles had no significant difference between the patients and controls. Conclusion The above results suggest this SNP may not be associated with the breast cancer in Chinese population, and indicates that the gene sequence of what we have studied doesn't account much for occurrence of the breast cancer in the population of China.

关 键 词：乳腺癌 基因突变 BRCA1基因 外显子 多态性位点 分子发病机制 

分 类 号：R737.9[医药卫生—肿瘤]