Rh阴性个体表型及RHD基因多态性研究  

Phenotype and RHD gene polymorphism of 64 Rh negative individuals

作　　者：和苗[1] 马娜[1] 董伟群[2] 吴穗[2] HE Miao;MA Na;DONG Weiqun;WU Sui(Department of Blood Transfusion,Yunnan Provincial Cancer Hospital,Kunming 650118,China;Department of Blood Transfusion,The First Affiliated Hospital of Kunming Medical University)

机构地区：[1]云南省肿瘤医院输血科,云南昆明650118 [2]昆明医科大学第一附属医院输血科

出　　处：《中国输血杂志》2022年第3期275-278,共4页Chinese Journal of Blood Transfusion

基　　金：云南省教育厅科学研究基金项目(2012Y020)。

摘　　要：目的收集患者做RHD基因分型检测,(C、c、E和e)表型检测,分析医院64例RhD阴性患者不同RHD基因型和表型的分布特征。方法用荧光定量聚合酶链反应(PCR)法对血清学检测为RhD阴性患者RHD基因进行基因分型;用IgM抗-e、抗-c、抗-C与抗-E标准血清鉴定Rh表型。结果检测发现RHD缺失型42例,以ccee表型(88.1%)为主;RHD1227A型9例,以Ccee表型(77.8%)为主;RHD-CE(3-9)-D2型8例,以Ccee表型(75%)为主;RHD-CE(3-10)-D2型1例,为Ccee表型;RHD*711delC型1例,RHAG位点无效型1例。用此聚合酶链式反应(荧光PCR)法无法判断分型结果2例。结论医院检测为RhD阴性的患者通过RHD基因型检测表现为多样性,大部分为RHD缺失型,其次为RHD1227A型、RHD-CE(3-9)-D2型、RHD-CE(3-10)-D2型、RHD*711delC型和RHAG位点缺失型。Objective To collect blood samples of 64 RhD negative patients in our hospital forRHDgenotyping and phenotype analysis(RhC/c/E/e),and analyze the distribution characteristics of differentRHDgenotypes.Methods The RHDgene of RhD negative patients was genotyped by fluorescence quantitative polymerase chain reaction(PCR)method.The Rh phenotype was identified by IgM anti-e,anti-c,anti-C and anti-E,respectively.Results Forty-two cases ofRHD deletion were detected,dominated by ccee phenotype(88.1%);9 ofRHD1227Acases,dominated by Ccee phenotype(77.8%);8 ofRHD-CE(3-9)-D2 cases,dominated by Ccee phenotype(75%);1 ofRHD-CE(3-10)-D2 case with Ccee phenotype,1 ofRHD*711delCcase;1 ofRHAGsite invalid type were detected.The typing results could not be determined in 2 cases by PCR method.Conclusion RhD negative patients showed diversity inRHDgenotype,dominated byRHDdeletion,followed byRHD1227A,RHD-CE(2-9)-D2,RHD-CE(3-10)-D2,RHD*711del CandRHAGsite deletions.

关 键 词：RHD阴性 RHD基因 基因分型 Rh表型 

分 类 号：R457.11[医药卫生—治疗学]