遗传性球形红细胞增多症与4.2蛋白相关性的研究进展  

The relationship between hereditaryspherocytosis and protein 4.2

作　　者：吴阳洋 廖林[1] 林发全[1] WU Yang-yang;LIAO Lin;LIN Fa-quan(Department of Clinical Laboratory,The First Affiliated Hospital of Guangxi Medical University,Nanning 530021,Guangxi,China)

机构地区：[1]广西医科大学第一附属医院检验科,南宁医学硕士研究生530021

出　　处：《医学研究生学报》2018年第8期874-877,共4页Journal of Medical Postgraduates

基　　金：国家自然科学基金(81360263)

摘　　要：遗传性球形红细胞增多症(HS)是一种常见的遗传性溶血性疾病,其分子发病机制是基因突变导致红细胞膜蛋白缺陷。目前已发现SPTA1基因、SPTB基因、ANK1基因、SLC4A1基因和EPB42基因等5种主要致病基因,分别编码α-血影蛋白、β-血影蛋白、锚蛋白、带3蛋白和4.2蛋白。国外关于EPB42基因突变导致4.2蛋白缺陷的研究报道较多,而国内HS与4.2蛋白相关性研究较少,文章主要就EPB42基因及其编码的4.2蛋白、4.2蛋白的缺陷机制与HS、与编码4.2蛋白基因相关的最新HS突变、带3蛋白突变的HS与4.2蛋白、4.2蛋白缺陷的主要实验室检查方法等进行综述。Hereditary spherocytosis(HS)is a common hereditary hemolytic disease.The molecular pathogenesis of HS involves gene mutations,which lead to deficiency or absence of erythrocyte membrane proteins.Five major pathogenic genes of SPTA1,SPTB,ANK1,SLC4A1 and EPB42 had been found,and they encodeα-spectrin,β-spectrin,ankyrin,band 3 and protein 4.2 respectively.There are many reports about gene mutations of EPB42,which cause deficiency or absence of protein 4.2 abroad.However,few scholars study the correlation between HS and protein 4.2 in China.This review describe the advances of the relationship between HS and protein 4.2 in detail.

关 键 词：遗传性球形红细胞增多症 4.2蛋白 基因突变 

分 类 号：R394[医药卫生—医学遗传学]