维吾尔族和汉族女性散发性乳腺癌BRCA1及BRCA2基因单核苷酸多态性研究

Research about single nucleotide polymorphisms of BRCA1 and BRCA2 gene between Han and Uyghur female patients with sporadic breast cancer

目的研究新疆汉族及维吾尔族女性散发性乳腺癌患者BRCA1及BRCA2基因单核苷酸多态性（Single Nucleotide Polymorphisms,SNP）的差异。方法收集新疆医科大学第一附属医院手术切除并经病理确诊为乳腺癌100例患者的活检样本,维吾尔族和汉族患者各50例。BRCA1基因引物设计参考NM_007300.3和NC_000017.11,BRCA2基因引物设计参考NM_000059.3和NC_000013.11,合成引物后对BRCA1及BRCA2基因SNP位点进行测序,采用SPSS17.0统计软件对数据进行卡方检验。结果在BRCA1-Exon10上有2个单核苷酸多态性位点（rs16941及rs16942）。BRCA1-Exon2内含子上有1个突变位点（Introns1-1125）。BRCA2基因未检测到基因多态性。BRCA1基因,rs16941位点的AA、AG、GG 3个基因型在汉族和维吾尔族患者中的分布频率差异有统计学意义（P=0.009）。rs16942位点的AA、AG、GG 3个基因型在汉族和维吾尔族患者中的分布频率差异有统计学意义（P=0.017）。rs16941位点,相对于AA基因型,AG、GG基因型能增加维吾尔族乳腺癌患者的易感性[OR值（95%CI）分别为2.498（1.033～5.994）及6.519（1.606～26.464）]。rs16942位点,相对于AA基因型,AG、GG基因型能增加维吾尔族乳腺癌患者的易感性[OR值（95%CI）分别为2.368（0.995～5.637）及5.741（1.395～23.630）]。结论 BRCA1基因,rs16941及rs16942位点的AA、AG、GG 3个基因型的分布频率在汉族和维吾尔族患者中存在差异。rs16941及rs16942位点,相对于AA基因型,AG、GG基因型能增加维吾尔族乳腺癌患者的易感性。

Objective To investigate differences in single nucleotide polymorphisms （Single Nucleotide Pol- ymorphisms, SNP） of BRCA1 and BRCA2 genes between Han and Uygur female patients with sporadic breast cancer in Xinjiang. Methods We collected biopsy samples of 100 patients who had undergone surgi- cal removal and had been pathologically diagnosed as breast cancer sufferers, including 50 Uyghur and 50 Han in The First Affiliated Hospital of Xinjiang Medical University. BRCA1 gene primer was designed ac- cording to NM_007300. 3 and NC 000017. 11. BRCA2 gene primer was designed according to NM_000059. 3 and NC_000013. 11. The gene sequencing of BRCA1 and BRCA2 was decided after synthetic primer. The data were analyzed by SPSS17.0 statistics software. Results There were two locus（rs16941 and rs16942） of single nucleotide polymorphisms on the BRCA1-Exon10. Another a mutation locus （Introns1-1125） was found on BRCA1-Exon2 introns. BRCA2 gene polymorphism was not detected. Statistically significant differences were found in the frequency distribution of genotype AA, AG and GG on rs16941 （P =0.009） and rs16942 （P =0.017）of BRCA1 between Han and Uygur patients. Compared with the AA genotype, the susceptibility of Uyghur patients with breast cancer was increased in AG and GG genotypes （odd ratio （95% CI） ： 2.498 [（1.033--5.994） and 6.519 （1.606--26.464）]as well as in rs16942 locus （odd ratio （95% CI） ： 2.368 [（0.995--5.637） and 5.741 （1.395--23.630）]. The relationship between BRCA1 gene rs16941 and rs16942 locus and the clinical pathological characteristics were analyzed, whereas there were no statis- tical differences. Conclusion Significant differences were found in the genotype AA, AG and GG on rs16941 and rs16942 of BRCA1 between Han and Uygur patients. In rs16941 and rs16942 locus, AG and GG genotypes might increase the susceptibility of Uyghur patients with breast cancer.