论文部分内容阅读
目的:探讨BRCA1基因启动子区rs11655505、rs73625095位点单核苷酸多态性与散发性乳腺癌易感性的关系。方法:采用ASA-PCR方法对200例乳腺癌患者(均经病理确诊)及200例正常女性BRCA1基因启动子区rs11655505(A/G)、rs73625095(A/G)位点单核苷酸多态性(SNP)进行分析,并将其PCR产物进行测序。结果:乳腺癌患者BRCA1基因启动子区rs11655505位点的A/G基因型频率为75%,显著高于正常人的40%;A/A基因型频率为7%,G/G基因型频率为18%,分别低于正常人的30%、30%。此位点的A或G等位基因在乳腺癌病例组及对照组中均无差别(x2=2.427,P=0.119);rs73625095位点的A/G基因型频率为68%,显著高于正常人的15%;G/G基因型频率为32%,低于正常人的84%;乳腺癌病例组中BRCA1基因启动子区rs11655505、rs73625095位点的A/G基因型与淋巴结转移与否相比,差别均有统计学意义(x2=7.321,P=0.026、x2=4.782,P=0.029)。结论:BRCA1基因rs11655505位点、rs73625095位点的A/G基因型可能与散发性乳腺癌的发生相关,而且与有无发生淋巴结转移密切相关。rs73625095位点A和G等位基因可能为散发性乳腺癌发生的遗传危险因素。
Objective: To investigate the relationship between rs11655505 and rs73625095 single nucleotide polymorphisms in BRCA1 gene promoter and susceptibility to sporadic breast cancer. Methods: A total of 200 breast cancer patients (all pathologically diagnosed) and 200 normal BRCA1 gene rs11655505 (A / G) and rs73625095 (A / G) single nucleotide polymorphisms (SNPs) were analyzed and their PCR products were sequenced. Results: The frequency of A / G genotype of rs11655505 in breast cancer patients was 75%, which was significantly higher than that of normal people (40%). The frequency of A / A genotype was 7% and the frequency of G / G genotype was 18%, respectively, less than 30% of normal, 30%. There was no difference in the A or G allele between the breast cancer group and the control group (x2 = 2.427, P = 0.119). The frequency of A / G genotype at rs73625095 was significantly higher than that of the normal A / G genotype of rs11655505 and rs73625095 loci in BRCA1 gene promoter region and lymph node metastasis or not in breast cancer case group, the frequency of G / G genotype is 32%, which is lower than that of normal people The differences were statistically significant (x2 = 7.321, P = 0.026, x2 = 4.782, P = 0.029). Conclusion: The A / G genotype of rs11655505 and rs73625095 in BRCA1 gene may be related to sporadic breast cancer and closely related to the presence or absence of lymph node metastasis. rs73625095 site A and G alleles may be sporadic breast cancer genetic risk factors.