RH放散D血型RHD1227A的鉴定

Identification on a RHD1227A Allele of weak D blood group

目的:对1例孕妇的Rh血型进行鉴定。方法:应用血清学方法鉴定该例样本的Rh血型及红细胞血型抗体鉴定。PCR-SSP进行RHD基因检测。结果:该孕妇RhD抗原盐水介质阴性,经3批间接抗人球蛋白方法确认1批RhD弱阳,其余2批RhD为阴性。Rh表型为Ccee。PCR-SSP检测RH基因含有10个外显子,含有RHD1227A基因。结论:RHD1227G>A突变导致先证者红细胞D抗原表达减弱,因而表现为放散D型。

Objective：To identify the Rh blood group of a pregnant woman.Method：Rh blood group and antibodies against red blood cells were detected by serological techniques.RH genes were analyzed by polymerase chain reaction-sequence specific primer（PCR-SSP）.Result：They were negative by Salt water medium,one weak positive and the other two negative of RhD phenotypes were detected by indirected coomb＇s test（IAT）.The serological phenotype of the sample were identified as Ccee.The result of PCR amplification showed that all of 10 RHD gene exons were presence,which determined the genotype of RHD alleles was RHD1227 A.Conclusion：1227GA mutation is responsible for the low expression of D antigen on red blood cell of the proband,and lead to DEL phenotype.