论文部分内容阅读
目的:调查女性雌激素受体α(ESRα)基因多态性的分布特征,并探讨其与血脂水平的关系。方法:收集605例浙江地区健康女性人群作为研究对象,提取其外周血DNA,应用PCR-RFLP和测序技术分析ESRα基因rs2234693和rs9340799位点的单核苷酸变异,计算其基因型和等位基因频率。同时检测其血清中血脂含量,以评价基因型与血脂水平之间的相关性。结果:ESRα基因rs2234693位点以“T”基因型(CT或TT)为主,而rs9340799位点则以“A”基因型(AA或AG)为主;ESRα基因两个位点各自的基因型分布与血脂水平差异无统计学意义(P>0.05);但携带有复合基因型“CTGG”(P=0.004,TG:0.60±0.21 mmol/L)或“TTAG”(P=0.014,TG:0.78±0.29 mmol/L)的女性人群甘油三脂水平均低于平均值(TG:1.14±0.93 mmol/L)。结论:ESRα基因复合基因型“CTGG”或“TTAG”与低甘油三脂水平明显相关,这可为女性血脂水平异常提供一些分子遗传学证据。
Objective: To investigate the distribution of female estrogen receptor α (ESRα) gene polymorphism and its relationship with serum lipid levels. Methods: A total of 605 healthy female population in Zhejiang Province were collected as experimental subjects. The DNA of peripheral blood was collected. The single nucleotide polymorphisms of rs2234693 and rs9340799 of ESRα gene were analyzed by PCR-RFLP and sequencing. The genotype and allele frequency. At the same time, the serum lipid level was tested to evaluate the correlation between genotypes and blood lipid levels. Results: The rs2234693 locus of ESRα gene was predominantly with the “T” genotype (CT or TT), while the rs9340799 locus was predominantly with the “A” genotype (AA or AG). The two sites of ESRα gene (P = 0.004, TG: 0.60 ± 0.21 mmol / L) or “TTAG” (P <0.05), but there was no significant difference between the two genotype distributions and blood lipid levels (P> 0.05) (P = 0.014, TG: 0.78 ± 0.29 mmol / L) were lower than the mean (TG: 1.14 ± 0.93 mmol / L). CONCLUSIONS: The genotypes of ESRα gene “CTGG” or “TTAG” are significantly correlated with low triglyceride levels, which may provide some molecular genetic evidence for abnormal blood lipid levels in women.