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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 study the mutation and significance of BRCA1 / BRCA2 gene in the family tree of Hui familial breast cancer in Ningxia Hui Autonomous Region. A total of 32 samples of 7 breast cancer pedigrees were collected from Ningxia Hui Autonomous Region, including 1 breast cancer patient from 7 breast cancer families and 25 direct relatives from families with breast cancer, and 20 normal Hui female blood donors. DNA was extracted from the peripheral white blood cells of the enrolled population and sequenced directly by PCR amplification of BRCA1 exons 5, 11, 18, 20, 24 and BRCA2 exons 10, The results showed that there were 11 types of mutations in the BRCA1 gene (1637del, 1675delA, 1731delC, 2731C> T, 3232A> G, 3551G> C, 3551G> T, 3551delG, 3582G> C, 3650delT, 3667A> G) all occurred on exon 11. Eight types of mutations were found in the BRCA2 gene (1093C> T, 1342C> A, 1593A> G, 1792G> T, 1792G> C, 1825delA, 1982delA, 1982A> G). These include the newly discovered mutation sites: three for BRCA1 (1731delC, 3551G> C, 3551delG) and two for BRCA2 (1792G> T, 1982A> G). These results suggest that the BRCA1 / BRCA2 mutation has its own characteristics in familial familial breast cancer families in Ningxia Hui Autonomous Region of Ningxia. The newly found mutation sites and mutation sites with higher mutation frequencies may be the characteristics of Hui women with familial breast cancer in Ningxia. Research on the region of genetic diagnosis screening model has important reference value.