内蒙古地区汉族散发性乳腺癌与BRCA1基因突变的相关性研究

Study on Mutation of BRCA1 Gene and Sporadic Breast Cancer in the Han nationality of the Inner Mongolia Region

目的本实验旨在研究内蒙古地区汉族散发性乳腺癌患者BRCA1基因第11外显子有无突变。方法选择内蒙古地区69例汉族散发性乳腺癌患者作为研究对象,提取DNA,采用聚HTK合酶链反应-单链构象多态性分析(PCR-SSCP)和基因测序技术方法检测BRCA1基因第11外显子。统计分析BRCA1基因突变情况。结果 69例散发性乳腺癌中BRCA1基因第11外显子上共发现2例突变(2073delA移码突变和W372X无义突变)。结论内蒙古地区汉族散发性乳腺癌中BRCA1基因第11外显子发现2例突变,均已收录于NCBI数据库中;尚未发现国内文献报道的在中国汉族群中可能具有部分始祖效应的突变位点。

Objective This experiment was to know the BRCA1 gene exon 11 mutation of sporadic breast cancer in the Han nationality of the Inner Mongolia region. Methods 69 cases of sporadic breast cancer from the Han nationality in the Inner Mongolia were studied. All the coded sequences of BRCA1 gene exon 11 were amplified by means of extracting genomic DNA. BRCA1 gene exon 11 was prescreened by PCR - SSCP and gene sequencing technology. The situation of BRCA1 gene mutation was statistically analyzed. Results In the 69 cases, there were two cases of BRCA1 gene exon 11 mutations： 2073delA frameshift mutation and W372X nonsense mutation. Conclusion In Inner Mongolia, there were 2 cases of BRCA1 gene exon 11 mutations; these mutations already have been founded in NCBI database. BRCA1 gene has not yet found the founder effect mutation.