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目的 研究中国人群 β3肾上腺素能受体 (β3AR)基因Trp64Arg突变频率以及该突变对冠心病患者临床特征的影响。方法 应用PCR/RFLP技术检测 2 52例中国人 (健康体检者 1 2 0例 ,冠心病患者 1 32例 )的 β3AR基因Trp64Arg突变基因型 ,并比较两组的临床特征。结果 (1 )冠心病组与对照组 β3AR基因Trp64Arg突变频率分别为 1 5 9%与 1 6 7% ,两者差异无显著性 (P >0 0 5)。β3AR基因Trp64Arg突变者的体重指数显著高于正常基因型 (P <0 0 5)。 (2 )突变与否间的临床特征差异无显著性 (P >0 0 5)。结论 β3AR基因突变杂合子型 (Trp/Arg)可能不是冠心病发生的决定因素。但Trp/Arg杂合子与Trp/Trp纯合子人群间体重指数差异有显著性 ,该基因变异被证实可能与肥胖等表现存在相关
Objective To study the frequency of Trp64Arg mutation of β3 adrenergic receptor (β3AR) gene in Chinese population and the effect of this mutation on the clinical features of patients with coronary heart disease. Methods The genotypes of Trp64Arg of β3AR gene were detected by PCR / RFLP in 522 Chinese patients (120 healthy subjects and 132 coronary heart disease patients). The clinical features of the two groups were compared. Results (1) The frequencies of Trp64Arg mutation of β3AR gene in coronary heart disease group and control group were 15 59% and 1 67%, respectively. There was no significant difference between the two groups (P> 0.05). The body mass index of the β3AR gene Trp64Arg mutant was significantly higher than that of the normal genotype (P <0.05). (2) There was no significant difference in clinical features between the two groups (P> 0.05). Conclusion The mutation of β3AR gene heterozygote (Trp / Arg) may not be the determinants of coronary heart disease. However, there was a significant difference in body mass index between Trp / Arg heterozygotes and Trp / Trp homozygotes, and the genetic variation was confirmed to be related to the presence of obesity