摘要
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 4 9位的野生型纯合子Ser/Ser(70 % ) ,Betal-AR389位的野生型纯合子Arg/Arg(6 3% ) ,Beta2 -AR 16位的杂合子Arg/Gly(80 % ) ,Beta2 -AR 2 7位的杂合子 (Gln/Glu(5 0 % ) ,Beta3-AR 6 4位的野生型纯合子Trp/Trp(6 5 % )。 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。
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.
出处
《重庆医科大学学报》
CAS
CSCD
2003年第6期704-708,共5页
Journal of Chongqing Medical University
基金
重庆市科委基金 (编号 [1999] -18-5 8
重庆医科大学科技创新基金
编号 :CX2 0 0 0 2 0 2
