目的 研究中国人群rn rnrn肾上腺素能受体基因Trp64Arg错义突变频率，并了解该突变对2型糖尿病临床特rn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124例2型糖尿病患者及138例非糖尿病对照rn人群中rn rnrn肾上腺素能受体基因Trp64Arg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rn试验中0分钟及120分钟血糖及胰岛素。结果非糖尿病人群中Trp64Arg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>0.05)；突变与否间上述临床特征相比无显著性差异(P>0.05)。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。%ObjectiveTo investigate whether the missense mutation (Trp64Arg) of beta 3-adrenergic receptorexists among Chinese subjects and further to investigate the relationship between the mutation and the clinicalcharacteristics of type 2 diabetes mellitus.Methods The body mass, waist-hip ratio, blood pressure, blood lipids andblood glucose and insulin of 0 min and 120 min in OGTT or eating steamed bread tolerance test were detected in apopulation of 124 type 2 diabetic patients and 138 non-diabetic subjects, among whom there was no first-degree-relativerelationship. Polymerase chain reaction and the restriction fragment length polymorphism analysis were used todetermine the wild, heterozygous and homozygous forms.Results The allelic frequency of the mutation was 0.17 innon-diabetic subjects； The mutation frequency of the three genetic types were similar between the diabetics and non-diabetics； Clinical features had no significant differences when Trp64Arg heterozygotes were compared with Trp64rnhomozygotes.Conclusion Thern rnrnTrp64Arg mutation at least in its heterozygous form is not a major determinant forrnrandom type 2 diabetes； Homozygous form may result in early onset of type 2 diabetes.
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