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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 detecting the mutation frequency of codon 64 in human β3-adrenergic receptor gene. Methods The β3-adrenoceptor gene was amplified by polymerase chain reaction (PCR). The gene encoding 64 amino acids was amplified by PCR. The amplified product was digested with restriction endonuclease BstOI. After polyacrylamide gel electrophoresis The restriction fragment length polymorphism (RFLP) pattern was observed. Results The codon 64 codons of the β3-adrenergic receptor gene in 174 Hans were detected by PCR-RFLP. The frequencies of wild-type homozygote and wild-type homozygote were 69.5% and 27.6%, respectively Type homozygote frequency of 2.9%. The frequency of the mutant allele was 0.17. Conclusion The method is simple, rapid and accurate, suitable for general laboratory testing and large-scale population survey.