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目的 :探讨中国人 型糖尿病与 β3 -肾上腺能受体 ( β3 - AR)基因 Trp64Arg变异的关系。 方法 :采用多聚酶链反应 -限制性片段长度多态性 ( PCR- RFLP)技术对无亲缘关系的山东省汉族 2 1 2例 ( 型糖尿病组 1 32例 ,非糖尿病组 80例 )的β3 -肾上腺能受体基因 Trp64Arg突变进行检测。 结果 :两组β3 - ARTrp和 Arg等位基因分布频率分别为 0 .84,0 .1 6和 0 .87,0 .1 3,二者无显著差异 ( P>0 .0 5) ,提示β3 - AR基因多态性与 型糖尿病的发生无密切关联。但 Arg纯合子体重指数、舒张压、血清甘油三脂、空腹血 C肽水平较高 ( P<0 .0 5) ,高密度脂蛋白胆固醇水平较低 ( P<0 .0 5) , 型糖尿病发病年龄较早 ( P<0 .0 5)。 结论 :中国山东省汉族中 ,存在β3 - AR基因变异。该突变杂合子型可能不是 型糖尿病的主要决定因素 ,但纯合子型可导致 型糖尿病早发。
Objective: To explore the relationship between the human β - adrenergic receptor (β3 - AR) gene Trp64Arg mutation in human type. Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the relationship between non-related β2-adrenoceptor in 221 unrelated Han Chinese patients (112 in type diabetes group and 80 in non-diabetic group) The receptor gene Trp64Arg mutation detection. Results: There were no significant differences in the distribution frequencies of β3 - ARTrp and Arg alleles between the two groups (0. 84,0. 1 6 and 0. 87,0. 1 3) (P> 0.05) AR gene polymorphism is not closely related to the occurrence of type. However, body weight index, diastolic blood pressure, serum triglyceride, serum C-peptide level of Arg homozygotes (P <0.05), low density lipoprotein cholesterol (P <0.05) The age of onset was earlier (P <0.05). Conclusion: The β3 - AR gene mutation exists in Han nationality in Shandong Province, China. This mutant heterozygote may not be a major determinant of type 2 diabetes, but homozygotes can cause premature onset of type 2 diabetes.