雌激素受体基因多态性与鼻咽癌发生的相关性研究

目的 探讨广西南宁鼻咽癌患者雌激素受体基因(ESR1)单核苷酸多态性(SNP)与鼻咽癌发生的关系.方法 以100例鼻咽癌患者,100例正常人群为研究对象.选取ESR1基因SNPrs9322354位点作为遗传标记,用聚合酶链式反应-限制性片段长度多态( PCR-RFLP)和测序方法检测ESR1基因多态性及其基因突变分布频率.结果 鼻咽癌组ESRI rs9322354突变率为30.0％(30/100),正常人群ESR1 rs9322354突变率为9.0％(9/100).rs9322354位点等住基因及基因型频率在鼻咽癌人群与正常对照组之间分布差异有显著性(P＜0.05).结论 ESR1基因SNP rs9322354位点多态性与鼻咽癌存在显著的相关性.

The relationship between the polymorphism of ESR1 gene and nasopharyngeal carcinoma

【Objective】 To investigate the relationship between single nucleotide polymorphisms(SNP) in the estrogen receptor alpha gene(ESR1) and nasopharyngeal carcinoma(NPC) in Guangxi Nanning.【Methods】 100 cases of NPC(case group) and 100 cases of normal person(control group) were recruited.The gene polymorphism and genetic mutation frequency distribution of ESR1 gene were observed in the two groups,SNP locus rs93422354 of ESR1 gene were analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing methods.【Result】 Among the NPC group and the normal group,the genetic mutation frequency of SNP locus rs9322354 of ESR1gene were 30.0%(30/100) and 9.0%(9/100),respectively.The allele and genotype frequency of rs9322354 had significant difference between the patients with the normal population(P <0.05).【Conclusion】 The result indicates that the SNP locus rs93422354 of ESR1 gene polymorphism is significantly associated with nasopharyngeal carcinoma.