1例新的弱D型的鉴定  

An Identification of a New Weak D Phenotype

作　　者：吴筱莹[1] 庄乃保[1] 徐红先[2] 何颖军[2] 邵超鹏[1] 

机构地区：[1]广东省深圳市血液中心,518035 [2]深圳市第一人民医院

出　　处：《临床输血与检验》2012年第2期103-106,109,共5页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：深圳市输血医学重点学科年度经费和深圳市科技项目(No．200903025)资助

摘　　要：目的分析1例新的Rh血型弱D型个体的RHD等位基因及其红细胞D抗原表位。方法采用常规血清学方法检测Rh血型D、C、c、E和e抗原表型,间接抗人球蛋白试验(IAT)确认D抗原,并分析D抗原表位;序列特异性引物-聚合酶链反应(PCR-SSP)测定RHD基因,然后分析RHD编码区全长序列,并检测RHD杂合型。结果血清学显示该个例为D抗原弱表现型,Rh因子为D+C+c+E-e+,PCR-SSP检测RHD基因显示与正常Rh(D)阳性对照相同。RHD编码区序列分析发现第9外显子存在1 212C>A碱基突变,其余外显子序列则与正常RHD基因一致(GenBank EF103573),RHD合子型鉴定为RHD+/RHD-杂合型,提示该个体基因型为CDe/cde。红细胞D抗原表位分析显示其具有基本完整D抗原表位。结论该个例为RHD1 212C>A碱基突变形成弱D72型。Objective To analyze the RHD allele and the D antigen epitopes of a new weak D phenotype individual.Methods Rh blood group D,C,c,E and e antigen phenotypes were tested by the routine serological methods,and the D antigen epitopes were further explored through the indirect antiglobulin test（IAT）.A sequence-specific primer PCR（PCR-SSP） method was applied for detection of RHD.Furthermore the whole length coding region of RHD was sequenced,and the RHD zygosity was also detected through PCR method.Results This sample was determined as weak D phenotype by serological tests,and the Rh factors are D＋C＋c＋E-e＋.The sequencing result showed a new mutation 1 212 CA at the exon 9 of the RHD gene while the remaining coding sequence was identical with normal RHD（GenBank EF103573）.The zygosity test showed a RHD＋/RHD-heterozygote,and it showed the donor was CDe/cde genotype.The red cell D antigen epitoping tests showed the sample possessing grossly intact D antigen molecules.Conclusion This individual is a weak D type 72 with the mutation of RHD1 212CA.

关 键 词：RH血型 D抗原 RHD基因 碱基突变 基因型 弱D型 

分 类 号：R692.6[医药卫生—泌尿科学] Q523.8[医药卫生—外科学]