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目的 研究中国人群 β3 肾上腺素能受体基因 Trp64 Arg错义突变频率 ,并了解该突变对 2型糖尿病临床特征的影响。方法 应用 PCR RFLP技术检测了相互间无一级亲属关系的 12 4例 2型糖尿病患者及 13 8例非糖尿病对照人群中 β3 肾上腺素能受体基因 Trp64 Arg错义突变 ;同时检查体重指数、腰臀比例、血压 ,测定血脂及 OGTT或馒头餐试验中 0分钟及 12 0分钟血糖及胰岛素。结果 非糖尿病人群中 Trp64 Arg等位基因频率为 0 17;突变频率在糖尿病与非糖尿病之间相比无显著性差异 (P >0 0 5 ) ;突变与否间上述临床特征相比无显著性差异 (P >0 0 5 )。结论 该突变至少在其杂合子型可能不是中国人散发 2型糖尿病的主要决定因素 ;纯合子突变型可能导致 2型糖尿病早发 ,有待今后积累资料深入研究。
Objective To study the frequency of missense mutation of Trp64 Arg of β3 adrenergic receptor gene in Chinese and to understand the effect of this mutation on the clinical features of type 2 diabetes mellitus. Methods PCR RFLP technique was used to detect the missense mutation of Trp64 Arg of β3 adrenergic receptor gene in 12 4 type 2 diabetic patients and 13 8 non-diabetic control subjects with no first-degree relatives. The body mass index, Hip ratio, blood pressure, blood lipid and OGTT or steamed bread test 0 minutes and 120 minutes of blood glucose and insulin. Results The frequency of Trp64 Arg allele was 0 17 in non-diabetic population. There was no significant difference in mutation frequency between diabetes and non-diabetes (P> 0.05). There was no significant difference between the above clinical features Difference (P> 0.05). Conclusion This mutation may not be the major determinant of type 2 diabetes in Chinese at least in its heterozygous form. Homozygous mutant may lead to premature onset of type 2 diabetes, awaiting accumulation of data for further study.