【摘要】 目的研究胰岛素受体(INSR)基因第8外显子NsiI多态性与代谢综合征(MS)的关系。方法通过对山东省五莲县15岁~居民进行MS流行病学调查,检测腰围、体质指数、血压、空腹血糖、高密度脂蛋白胆固醇、甘油三酯等指标。从中随机抽取55例代谢综合征患者和127名正常对照。提取外周血白细胞DNA后进行PCR扩增,采用NsiI酶切和对部分PCR产物直接测序检测相关基因多态性。结果MS组INSR基因N2等位基因频率高于正常对照组(P<0.05)。结论INSR基因NsiI多态性与代谢综合征有关,N2等位基因可能是代谢综合征的1个易感基因。更多还原

【Abstract】 Objective To study the relationship between the polymorphisms of insulin receptor（INSR）gene exon 8 and metabolic syndrome（MS）.Methods Epidemiological survey for MS was conducted in Wulian county of Shandong province.Some correlated clinical markers were measurd in all subjects,such as waistline（WL）,bodymass index（BMI）,blood pressure（BP）,fasting serum glucose（Glu）,serum total cholesterol（TCH）and triglyceride（TG）.Using random sampling,55 MS patients and 127 mormal controls were chosen to detect the NsiI polymorphism of insulin receptor gene.DNA was extracted from peripheral blood leukocytes.Then polymerase chain reaction（PCR）combined with restriction enzyme（NsiI）digestion was used to detect gene polymorphism.Finally some output of the PCR was sequenced to certificate the mutant base.Results N₂ allele frequency of INSR gene of MS group was higher than that of control（0.227 vs 0.126,P<0.05）.Conclusion NsiI polymorphism of INSR gene is associated with MS in Chinese population.N₂ allele of INSR gene may be one of the genes in correlation with Chinese MS patients.更多还原