目的探讨金属硫蛋白(metallotionein,MT)基因家族中的MT4基因G-201A位点单核苷酸多态性(SNPs)在2型糖尿病及原发性高血压的分布差异性.方法选取2型糖尿病患者324例,原发性高血压患者301例,正常对照者301例.应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测MT4基因G-201A位点的基因多态性.结果(1)2型糖尿病324例、原发性高血压301例、正常对照者301例中MT4G-201A基因型GG、GA、AA的频率分别为39.5%、46.6%、13.9%;42.2%、48.5%、9.3%;42.5%、51.5%、6.0%;基因型分布均符合Hardy-Weinberg平衡(>0.05);(2)MT4G-201A多态性:3组间基因型及等位基因(G和A)频率分布差异有统计学意义(<0.05);原发性高血压组和正常组比较分布差异无统计学意义(>0.05);2型糖尿病组和正常组比较分布均差异有统计学意义(<0.05);原发性高血压组与2型糖尿病组比较,基因型及等位基因均差异无统计学意义(>0.05);(3)男性MT4G-201A多态性:3组间基因型及等位基因频率分布差异有统计学意义(<0.05);原发性高血压组与2型糖尿病组比较,基因型及等位基因均无统计学意义;女性MT4G-201A多态性:3组间基因型及等位基因频率分布,有统计学意义(<0.05),2型糖尿病组和正常对照组比较分布均有统计学意义(<0.05);原发性高血压组与2型糖尿病组比较,等位基因频率无统计学意义(>0.05).结论(1)MT基因G-210A多态性与2型糖尿病相关,与原发性高血压无相关性;(2)女性2型糖尿病MT基因G-210A多态性基因型分布与正常不同,但与高血压无异;男性则无此差异.
Objective To investigate the difference of MT4 G-201A of Metallothionein (metallotionein,MT) family gene locus single nucleotide polymorphisms (SNPs) in type 2 diabetes and essential hypertension.Mothods We selected 324 cases of patients with type 2 diabetes, 301 cases of patients with essential hypertension, 301 case of normal physical examination population. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) analysis technology was used to detect MT4 G-201A polymorphism. Results (1) The genotype GG, GA and AA frequency of MT4 G-201A in 324 cases of patients with type 2 diabetes,301 cases of patients with essential hypertension,301 case of normal physical examination population were 39.5%,46.6%,13.9%;42.2%,48.5%,9.3%;and 42.5%,51.5%,6.0%, respectively. The genotypes in all the distribution were in Hardy-Weinberg equilibrium ( >0.05) . (2) MT4 G-201A polymorphism: Three groups of genotype and allele frequency distribution (G and A) had differences ( <0.05) ; there was no difference between essential hypertension group and normal group ( >0.05);there was a difference between type 2 diabetes group and the normal group ( <0.05);there was no significant difference in genotype and allele frequency distribution ( >0.05) . (3) MT4 G-201A polymorphism in Men: Three groups of genotype and allele frequency distribution had differences ( <0.05) . In essential hypertension and type 2 diabetes group,there was no significant difference in genotype and allele frequency distribution ( >0.05) .MT4 G-201A polymorphism between women:Three groups of genotype and allele frequency distribution had differences ( <0.05),there was a difference between type 2 diabetes and normal group genotypes ( <0.05) . Conclusions (1) There is correlation of MT gene G-210A polymorphism and type 2 diabetes, no association with essential hypertension.(2) There is a difference of MT gene G-210A polymorphismin type 2 diabetes in women,no difference in men.