Beta肾上腺素能受体3种亚型基因的5位点SNP的基因型分布

目的：研究Beta肾上腺素能受体3种亚型基因的5个位点的单核苷酸多态性基因型分布。方法：用DNA提取试剂盒抽提338例受试者外周血白细胞DNA，用聚合酶链反应-限制性片段长度多态性及等位基因特异性PCR技术获得Beta-AR 3种亚型基因的5个位点的SNP基因型。结果：分别获得了338例受试者的Beta-AR 3种亚型基因的5个位点中的每一位点的SNP基因型的自然分布特征。各位点的优势基因型为：Beta2-AR 49位的野生型纯合子Ser／Ser(70％)，Betal-AR 389位的野生型纯合子Arg／Arg(63％)，Beta2-AR 16位的杂合子Arg/Gly(80％)，Beta2-AR 27位的杂合子(Gln／Glu(50％)，Beta3-AR 64位的野生型纯合子Trp/Trp(65％)。结论：Beta-AR 3种亚型基因的5位点中每位点的SNP基因型分布是非均匀的且各位点的分布特征是不同的，它是进一步研究其与功能和疾病的关系的基础。

Genotype distributions of the 5 sites SNPs in the 3 subtypes of beta adrenoreceptor

Objective:To study the genotype-by site distributions of SNP(single nucleotide polymorphisms)at the 5 sites in the 3 subtypes of beta adrenoreceptor(Beta-AR or B-AR).Methods:DNA was extracted from the peripheral venous blood of 338 subjects using Blood DNA Mini Kit.The 5 sites SNP in the 3 subtypes of Beta-AR were genotyped by PCR-RFLP(polymerase chain reaction-restriction fragment length polymorphism) and allele specified PCR techniques.Results:The natural distribution characteristics for SNP at the 5 sites in the 3 subtypes of Beta-AR of 338 subjects were gotten.The predominant phenotypes are as follows:Beta1-AR wild homozygote Ser/Ser49(70%),Beta1-AR wild homozygote Arg/Arg389(63%),Beta2-AR heterozygote Arg/Gly16(80%),Beta2-AR heterozygote Gln/Glu27(50%),Beta3-AR wild homozygote Trp/Trp64(65%).Conclusion:It is heterogeneous in distribution in different styles for the genotype-by site distribution of SNP at the 5 sites in the 3 subtypes of Beta-AR,which is the basis for further investigating the relationship among the distribution,gene function and diseases.