人β_3-肾上腺素能受体基因第64位密码子突变频率的检测  

Detection of mutation frequencies at codon 64 in the β 3 adrenergic receptor gene with PCR RFLP in health individuals

作　　者：肖尚喜[1] 包爱民[1] 杨明功[1] 张军[1] 

机构地区：[1]安徽医科大学第一附属医院检验科

出　　处：《中华医学检验杂志》1998年第2期82-84,共3页

基　　金：安徽省教委自然科学基金

摘　　要：目的建立一种简便、准确、实用的人β３－肾上腺素能受体基因第６４位密码子突变频率的检测方法。方法应用聚合酶链反应（ＰＣＲ）特异性扩增β３－肾上腺素能受体基因含编码６４位氨基酸的基因序列，扩增产物用限制性内切酶ＢｓｔＯＩ酶切，聚丙烯酰胺凝胶电泳后，观察酶切位点的限制性片段长度多态性（ＲＦＬＰ）图谱。结果运用ＰＣＲ－ＲＦＬＰ法检测了１７４名汉族人β３－肾上腺素能受体基因第６４位密码子点突变，其中野生型纯合子频率为６９．５％，杂合子频率为２７．６％，突变型纯合子频率为２．９％。突变等位基因频率为０．１７。结论该方法简便、快速、准确，适合于一般实验室检测及大规模的人群调查。Objective To establish a simple, accurate and practical method for β 3 adrenergic receptor(β 3 AR) genotyping.Method β 3 AR gene sequences containing amino acid position 64 were amplified by using polymerase chain reaction(PCR). The PCR products were digested with Bst OI and subjected to electrophoresis on polyacrylamide gels. The patterns of restriction fragment length polymorphism(RFLP) of β 3 AR gene were distinguished.Results 174 health individuals were investigated with this PCR RFLP method. The prevalence of genotype for the normal homozygote, the normal/mutant heterozygote and the mutant homozygote was 69.5%, 27.6% and 2.9% respectively. The frequency of the mutant allele in the subjects was 0.17.Conclusion The PCR RFLP method was considered a rapid and simple technique for obtaining accurate results and also suitable for routine laboratories and large scale population studies.

关 键 词：受体 肾上腺素能Β 基因突变 PCR-RFLP 

分 类 号：Q75[生物学—分子生物学] R446.9[医药卫生—诊断学]