Rh血型系统遗传分子学研究进展  

Molecular genetic research progress of Rh blood group system

作　　者：范佳鸣[1] 曾艳[1] 张建军[1] FAN Jia-ming;ZENG Yan;ZHANG Jian-jun(Shaoxing Women and Children′s Health Care Hospital,Zhejiang 312000,China)

机构地区：[1]浙江省绍兴市妇幼保健院,浙江绍兴312000

出　　处：《中国优生与遗传杂志》2020年第2期267-269,131,共4页Chinese Journal of Birth Health & Heredity

基　　金：绍兴市公益性技术应用研究计划项目(2018C30039)。

摘　　要：Rh血型系统是最具复杂性和多态性的红细胞血型系统,在临床仅次于ABO血型。在Rh血型系统中D抗原免疫性最强,由于RhD基因易突变导致D抗原存在多种变异体,突变的D抗原会导致血清学反应出现不确定或者矛盾的结果,引起输血性溶血反应、新生儿溶血病等,因此鉴定RhD阴性基因型在临床输血和产前诊断中具有非常重要的临床意义。随着分子技术的发展,对Rh抗原分子机理的深入研究,分子鉴定各种D变异体已成为热点,本文就Rh基因结构、Rh血型基因分型、分子检测方法等研究进展进行简要综述。Rh blood group system is the most complex and polymorphic systems in human red cell blood groups,next to ABO in clinical.Because of the RhD gene mutations,D antigen as one of the most important antigen in this system was described many molecular variants,which cause serological recation appear uncertain or contradictory results,and lead to the occurrence of hemolytic transfusion reaction or HDFN.Identifying the D-negative genetypes has great significance in clinical transfusion and prenatal diagnosis.In recent years,with the rapid development of molecular techniques,molecular detection of D variant blood group antigen is become research hotspot.In this review,we summarize recommend the molecular structure of Rh gene,also we describe the research progress of Rh blood group genotype and molecule testing method.

关 键 词：Rh基因 D变异体 基因分型 分子检测 产前诊断 

分 类 号：R394.3[医药卫生—医学遗传学]