回族家族性乳腺癌患者BRCA1/BRCA2基因序列突变分析  

Analysis of mutations of BRCA1/BRCA2 in familiar breast cancer patients from Hui nationality

作　　者：尹琳琳[1] 陈耀平[2] 杨宝珍[2] 吴若芬[2] 康毓芝[1] 

机构地区：[1]宁夏医科大学 [2]宁夏医科大学总医院,银川750004

出　　处：《现代免疫学》2012年第2期115-119,共5页Current Immunology

基　　金：宁夏回族自治区科技攻关计划项目(2008)

摘　　要：研究BRCA1/BRCA2基因在中国宁夏回族自治区回族家族性乳腺癌家系中的突变及意义。选取中国宁夏地区回族7个乳腺癌家系共32例样本,包括7个乳腺癌家系中各1例乳腺癌患者和25例为各家族乳腺癌患者的直系女性亲属;20例正常回族女性献血者。从入组人群外周血白细胞中提取DNA,对BRCA1外显子5、11、18、20、24和BRCA2基因外显子10、11进行PCR扩增后直接测序。结果显示,在7例回族家族性乳腺癌家系32人中,BRCA1基因共发现11种类型的突变(1637delG,1675delA,1731delC,2731C>T,3232A>G,3551G>C,3551G>T,3551delG,3582G>C,3650delT,3667A>G),均发生在于11号外显子。BRCA2基因共发现8种类型的突变(1093C>T,1342C>A,1593A>G,1792G>T,1792G>C,1825delA,1982delA,1982A>G),均发生于外显子10。其中包括新发现的突变位点:BRCA1三个(1731delC,3551G>C,3551delG)、BRCA2两个(1792G>T,1982A>G)。提示BRCA1/BRCA2突变在中国宁夏回族家族性乳腺癌家系中有其自身特点,新发现的突变位点和突变频率较高的突变位点,可能是宁夏回族家族性乳腺癌的特点。研究对本地区的基因诊断筛查模式有重要的参考价值。To investigate mutations of BRCA1/BRCA2 in familial breast cancer from Ningxia Autonomous Region. Seven families with familial breast cancer were enrolled into this study. Thirty-two samples were collected from members of the 7 families, including one cancer patient from each of the 7 families, and 25 females first degree relatives without cancer. Twenty un- related female donors served as controls.. DNAs were extracted from peripheral blood leukocytes and exon 5,11,18,20,24 of BCRA1 and exon 10,11 of BCRA2 genes were amplified by PCR and subject to direct sequencing. Eleven mutations were found in BCRA1 and all occurred in exon 11, whereas 8 mutations were found in BCRA2 gene and within exon 10. Among the 19 mutations observed, 2 were found for the first time. These results suggest that Hui familial breast cancer in Ningxia Autonomous Region has its characteristic mutation pattern and may be useful to establish gene screening model for breast cancer in the region.

关 键 词：乳腺肿瘤 BRCA1基因 BRCA2基因 突变 

分 类 号：R737.9[医药卫生—肿瘤]