摘要
目的探讨中国南京地区汉族人群血清类粘蛋白（ｏｒｏｓｏｍｕｃｏｉｄ，ＯＲＭ）的遗传多态性，为研究弱碱性药物血浆蛋白结合率的个体差异提供背景资料。方法采用超薄层聚丙烯酰胺凝胶等电聚焦电泳、免疫印迹技术，对２２０名无血缘关系个体去唾液酸的血清ＯＲＭ表现型进行了研究，并获取其基因频率数据。结果ＯＲＭ１座位的３个复等位基因（ＯＲＭ１＊Ｆ１、ＯＲＭ１＊Ｆ２和ＯＲＭ１＊Ｓ）控制着ＯＲＭ１的５种表现型，其中ＯＲＭ１Ｆ１占４７．２７％，ＯＲＭ１Ｓ占５．４６％，ＯＲＭ１Ｆ１Ｆ２占３．１８％，ＯＲＭ１Ｆ１Ｓ占４３．６４％，ＯＲＭ１Ｆ２Ｓ占０．４５％。据此求得基因频率ＯＲＭ１＊Ｆ１为０．７０６８，ＯＲＭ１＊Ｆ２为０．０１８２，ＯＲＭ１＊Ｓ为０．２７５０。该座位多态分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律。全部检出了由ＯＲＭ２＊Ａ基因控制的ＯＲＭ２Ａ型。结论南京地区汉族人群ＯＲＭ１座位具有遗传多态性，而ＯＲＭ２座位不具遗传多态性。
Objective To determine the genetic polymorphisms of serum orosomucoid(ORM) in Han population in Nanjing of China and provide genetic data for studying the individual variance in the plasma protein binding of weak alkaline drugs. Methods The desialylated sera from 220 unrelated subjects were analyzed by isoelectric focusing on polyacrylamide gels followed by immunoblotting. Results The band patterns of ORM showed that the polymorphism of the structural locus ORM1 was controlled by three codominant autosomal alleles, ORM1*F1, ORM1*F2 and ORM1*S, which presented five phenotypes. ORM1 F1(47.27%), ORM1 S(5.46%), ORM1 F1F2(3.18%), ORM1 F1S(43.64%), and ORM1 F2S(0.45%). The allele frequencies were:ORM1*F1=0.7068, ORM1*F2=0.0182, ORM1*S=0.2750. Conclusion The ORM1 locus is polymorphic and the ORM2 locus is monomorphic in sera from the Han people in Nanjing of China.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
北大核心
1999年第4期236-238,共3页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
关键词
类粘蛋白
遗传多态性
汉族
南京地区
OrosomucoidGenetic polymorphismPhenotypesIsoelectirc focusing Pharmacogenetics
