关键词: 多态性, 单核苷酸,

Abstract: Objective To study the association of single nucleotide polymorphisms (SNPs) in the estrogen receptor alpha gene(ESR1) with breast cancer susceptibility and different tumor clinical pathological characteristics. Methods The PCR-RFLP method was used to examine ESR1 genotype in 193 women with breast cancer and 71 healthy women. The potential role of the ER alpha genotype in estrogen receptor (ER), progesterone receptor (PR), cerbB2 expression and some other clinical pathological manifestations were assessed by SPSS 11.0 software. Results ①The allele frequencies of RS2077647 accorded with Hardy-Weinberg equilibrium;②The allele and the genotype frequencies of RS2077647 were positively associated with the age of patient, the size of the tumor and PR expression. The distributions of allele and genotype frequencies of RS2077647 were statistically different in breast cancer patients sub-groups classified by age, tumor size and PR expression （P＜0.05);③The distributions of RS2077647 genotype had no significant difference between the patients and healthy women. Conclusion RS2077647 polymorphisms is positively associated with the age of the patient, the size of the tumor and PR expression. It has no relationship with breast cancer susceptibility.

Key words: polymorphisms, single nucleotide