RhD阴性围产期妇女RHD基因分型及Rh表型分析

RHD Genotyping and Rh Phenotype Analysis in RhD Negative Perinatal Women

目的研究RhD初筛试验阴性围产期妇女RHD基因分型,并分析不同基因型的RhC、c、E、e的分布特征。方法应用血清学方法对104例初筛为RhD阴性的围产期妇女标本进行RhC、c、E、e表型鉴定;使用PCR-SSP法对IAT确认为RhD阴性的样本进行RHD基因分型。结果 104例RhD初筛阴性个体中,RhC/E血型分型结果 ccee:57例(54.8%),Ccee:29例(27.9%),ccEe:10例(9.6%),CCee:4例(3.8%),CcEe:3例(2.9%),ccEE:1例(1%);RHD基因分型结果为:全缺失RHD基因型70例(67.3%),DEL RHD 1227A纯合型13例(12.5%),RHD-CE(2-9)-D型10例(9.6%),弱D15型5例(4.8%),DEL RHD 1227A杂合型2例(1.9%),RhD阳性2例(1.9%),2例(1.9%)不能用此PCR-SSP方法确定其基因型。结论 RhD阴性围产期妇女的RHD基因型分子机制具有丰富的多态性,主要为RHD全缺失型,其次为DEL RHD 1227A纯合型和RHD-CE(2-9)-D型。

Objective To study RHD genotyping and characteristics of RhC/c/E/e phenotypes in perinatal women with negative RhD screening test.Methods All samples were texted by serologic blood grouping texts for their phenotypes and irregular antibodies.The genetic typing of RHD samples were identified based on PCR-SSP.Results 104 cases with RhD primary screening-negative,Rh types of pregnant women with RhD negatively were recorded as 57 ccee cases(54.8%),29 Ccee cases(27.9%),10 ccEe cases(9.6%),4 CCee cases(3.8%),3 CcEe case(2.9%),1 ccEE case(1%);and RHD genetic typing results were 70 cases lacked the whole RHD gene(67.3%),13 cases of DEL RHD 1227 A homozygotes(12.5%),10 cases of RHD-CE(2-9)-D(9.6%),5 cases of weak D15(4.8%),2 cases of DEL RHD 1227 A Hetero-zygotes(1.9%),2 case of RhD positive(1.9%).2 cases could not be genotyped by the PCR-SSP method(1.9%).Conclusion Diversity of RHD genotypes is found in the pregnant women,most pregnant women are RHD deletion genotype,followed by RHD1227 A homozygotes and RHD-CE(2-9)-D.