Hu Rui, Wei Yang, Jiang Wen-jun, Yao Wen-xiu, Long Qi-ming, Zhang Jian-hui, Liang Ying, Tang Xiao-lan
Department of Mastologic Surgery, Sichuan Cancer Hospital, Sichuan Province, Chengdu 610041, China.
Sichuan Da Xue Xue Bao Yi Xue Ban. 2008 Nov;39(6):973-5.
To determine the associations between the polymorphisms of N372H in BRCA2 gene and 135G/C in RAD51 gene and breast cancers.
The allele and genotype frequencies of N372H in BRCA2 gene and 135G/C in RAD51 gene were analyzed with denaturing high performance liquid chromatography (DHPLC) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 71 women with breast cancers and 85 normal, women.
The women with breast cancers had higher frequencies of genotype HH of the N372H locus in BRCA2 gene than the normal women. No statistical difference in the polymorphic distribution of 135G/C in RAD51 gene was observed between the two groups of women.
The genotype HH of the N372H locus in BRCA2 is associated with breast cancers, which might be a genetic risk factor for breast cancers in Chinese populations.
确定BRCA2基因N372H多态性与RAD51基因135G/C多态性和乳腺癌之间的关联。
采用变性高效液相色谱法（DHPLC）和聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP），对71例乳腺癌患者和85例正常女性进行BRCA2基因N372H和RAD51基因135G/C的等位基因及基因型频率分析。
乳腺癌患者中BRCA2基因N372H位点的HH基因型频率高于正常女性。两组女性RAD51基因135G/C多态性分布无统计学差异。
BRCA2基因N372H位点的HH基因型与乳腺癌相关，可能是中国人群乳腺癌的遗传危险因素。
