陕西省部分人群中β_3肾上素能受体基因多态性调查

Polymorphism in the β_3-adrenergic receptor gene among the normal population in Shanxi province

目的 人体 β3 肾上素能受体 (β3 AR)基因具有多态性 ,其胞嘧啶与胸腺嘧啶的突变导致 β3 AR6 4位色氨酸被精氨酸置换 (Trp 6 4Arg)。本文调查了陕西省部分人群 β3 AR基因的变异情况。方法 采取PCR -RFLP方法检测β3 肾上素能受体基因TC突变。结果 98名大学生中 ,纯合突变型基因的频率为 4 0 8% ,杂合突变型基因的频率为 2 0 4 1% ,野生型基因的频率为 75 5 1% ,T等位基因的频率为 85 71% ,C等位基因的频率为 14 2 9%。结论 我国也存在 β3 AR基因的变异。

Objective:β 3-adrenergic receptor (β 3AR)gene has polymorphism,and its missense mutation in codon 64 of the gene leads to the replacement of tryptophan by arginine (Trp 64 Arg) in the receptor protein.In the present study,the β 3-adrenergic receptor gene was screened for nucleotide variations in Chinese people in Shanxi province.Methods:TC missense mutation of β 3 AR gene was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results:Among 98 students,the frequencies of CC homozygous genotyge,the TC heterozygous genotype and wide type were 4.08%, 20.41%,75.51% respectively,The T allele frequency was 85.71% and the C allele frequency was 14.29%.Conclusion:There are β 3-adrenergic receptor gene missense mutation in our country.