1例新的弱D型的鉴定

摘要

Objective To analyze the RHD allele and the D antigen epitopes of a new weak D phenotype individual. Methods Rh blood group D, Ct 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 se-quenced. 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 C>A 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 212OA.%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1 212 C＞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RHD 1 212 C＞A碱基突变形成弱D72型.