上海市正常人群血清丁酰胆碱酯酶基因多态性研究

目的 描述上海市正常人群血清丁酰胆碱酯酶基因型的多态分布特点，为其他研究提供基线资料。方法选取100例无有机磷接触、无急慢性肝病史和慢性消耗性疾病的正常人群，应用PCR-RFIP法确定基因型。结果丁酰胆碱酯酶K(BCHE-K)变异的3种基因型UU、UK和KK在正常人群中的频率分别为。74％，25％和1％；等位基因U、K在正常人群中的频率分别为86．5％和13．5％。遗传平衡检验发现其达到Hardy-Weinberg遗传平衡。结论上海市正常人群的BCHE-K位点的多态分布与欧美人群接近。

Study on serum butyrylcholinesterase gene polymorphism in healthy population of Shanghai

Objective To describe features of serum butyrylcholinesterase gene polymorphism in normal healthy population in Shanghai and to provide basis for other studies.Method One hundred of healthy people without exposure to organic phosphorous or histories of acute and chronic liver disease and chronic wasting disease were selected in Shanghai.Their genotype was determined with PCR RFLP.Result Frequency of three variants of butyrylcholinesteras gene K(BCHE K)polymorphism was 74%,25%and 1% for UU,UK and KK,respectively in healthy people.Frequency of allele U and K was 86 5% and 13 5%,respectively in them,attaining the Hardy Weinberg equilibrium.Conclusion Polymorphic distribution of serum butyrylcholinesterase gene K focus was similar to that in Caucasian people.