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目的：探讨β３肾上腺素能受体（β３ＡＲ）基因６４位点的色氨酸（Ｔｒｐ）密码子被精氨酸（Ａｒｇ）置换与胰岛素抵抗及代谢综合征的关系。方法：利用ＰＣＲ扩增包含６４位密码子的该基因片段，内切酶ＢｓｔＮＩ消化电泳确定６４位点基因型。结果：１５２名中国ＮＩＤＤＭ患者的Ａｒｇ等位基因频率为０１７，高于芬兰人，低于Ｐｉｍａ印第安人，与日本人ＮＩＤＤＭ人群基因频率相近。４５例携带Ａｒｇ等位基因和１０７例Ｔｒｐ纯合子的ＮＩＤＤＭ患者中分别有６例和２例发生糖尿病足坏疽，前者糖尿病足坏疽危险性８倍于后者（Ｐ＜００１）。β３ＡＲ基因６４位密码子Ｔｒｐ被Ａｒｇ置换的患者糖尿病发病年龄有年轻化的趋势，Ａｒｇ纯合子、杂合子及Ｔｒｐ纯合子的糖尿病发病年龄分别是４４３岁、４６５岁和４９６岁。结论：ＮＩＤＤＭ发病年龄与β３ＡＲ基因的Ａｒｇ６４替代有关，并在世界上首次提出β３ＡＲＡｒｇ６４等位基因可能是糖尿病足坏疽的风险基因
Objective: To investigate the relationship between arginine (Arg) substitution, tryptophan (Trp) codon 64 and β-adrenergic receptor (β3AR) gene and insulin resistance and metabolic syndrome. Methods: The gene fragment containing 64-mer codons was amplified by PCR. The 64-site genotype was determined by BstNI digestion electrophoresis. Results: The frequency of Arg allele in 152 Chinese patients with NIDDM was 017, higher than that of Finns, lower than that of Pima Indians, and similar to that of Japanese NIDDM patients. 45 cases of NIDDM patients carrying Arg allele and 107 Trp homozygotes had diabetic foot gangrene in 6 and 2 diabetic patients, respectively. The former had 8 times the risk of diabetic foot gangrene (P <001). The age at onset of diabetes tended to be younger in patients with the Trp codon 64 of the β3-AR gene being replaced by Arg. The age of onset of diabetes for Arg homozygotes, heterozygotes and Trp homozygotes were 44.3 years, 46.5 years and 49 years, respectively 6 years old. Conclusion: The age of onset of NIDDM is related to the substitution of Arg64 in β3AR gene. For the first time, β3ARRg64 allele in the world may be the risk gene of diabetic foot gangrene