| 郑玲莉1 吴琍2△ 曹伟红2 陈庆峰2.BRCA1 基因启动子区SNPs 与散发性乳腺癌易感性的相关研究[J].,2011,11(1):12-17 |
| BRCA1 基因启动子区SNPs 与散发性乳腺癌易感性的相关研究 |
| Research on Relation between SNPsin BRCA1 Gene PromoterRegion and Sporadic Breast Cancer Susceptibilit* |
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| DOI： |
| 中文关键词: 散发性乳腺癌 BRCA1 基因 单核苷酸多态性 ASA-PCR 基因型 |
| 英文关键词: Sporadic breast cancer BRCA1 gene Single nucleotide polymorphisms (SNP) ASA - PCR Genotype |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| Objective: To investigate the relationship between rs11655505 and rs73625095 SNPs of BRCA1 gene promoter region
and the susceptibility of sporadic breast cancer. Methods: ASA-PCR method was used to analyze the rs11655505 （A/G）, rs73625095
（A/G）SNPs of BRCA1 gene promoter region in 200 patients with breast cancer (all confirmed diagnosis) and nomal women, and their
PCR products were all sequenced. Results: The A/G genotype frequency of BRCA1 gene promoter region rs11655505 site of patients
with breast cancer (75%)was higher than that of the nomal person (40%);The A/A genotype frequency (7% )and the G/G genotype frequency
(18%)were both lower than that of the nomal person(30%); There was no difference in the A or G alleles in this site between the
cases and the controls (x2=2.427，P=0.119). The A/G genotype frequency in rs73625095 site of patients with breast cancer (68%)was
higher than that of the nomal person (15%), while the G/G genotype frequency (32%)was lower than that of the nomal person (84%);
Comparing the A and the G alleles between the cases and the controls, it showed statistically significant differences（x2=80.107，P=0.
000）; According to further analysis of the cases, there was statistically significant differences comparing A/G genotype in BRCA1 gene
promoter region rs11655505, rs73625095 sites and lymph node metastases or not.（x2=7.321，P=0.026, x2=4.782，P=0.029）. Conclusions:
A/G genotype in BRCA1 gene promoter region rs11655505, rs73625095 sites may have relationship with the sporadic breast cancer and
lymph node metastases. A and G alleles may be the dangerous genetic factors of the sporadic breast cancer. |
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