天津地区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

目的研究天津地区RhD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分布特征。方法收集2017年1月至2019年12月在天津市第五中心医院就诊的RhD阴性围产期妇女标本104例,应用血清学方法进行RhC、c、E、e表型鉴定;使用PCR-SSP法对间接抗人球蛋白试验(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血型分型结果显示,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基因分型结果显示,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 RhD negative perinatal women in Tianjin.Methods Samples from 104 RhD negative perinatal women from January 2017 to Decem-ber 2019 in the Fifth Central Hospital of Tianjin were collected.The phenotypes of RhC,c,E,and e were identified by serological method.The genetic typing of RHD samples were identified based on PCR-SSP.Results The RhC/E blood group typing of the 104 cases with negative results in RhD primary screening showed 57 cases of ccee(54.8%),29 cases of Ccee(27.9%),10 cases of ccEe(9.6%),4 cases of CCee(3.8%),3 cases of CcEe(2.9%),and 1 case of ccEE(1%).RHD genetic typing showed 70 cases with complete deletion of RHD gene(67.3%),13 cases of DEL RHD 1227A homo-zygotes(12.5%),10 cases of RHD-CE(2-9)-D(9.6%),5 cases of weak D15(4.8%),2 cases of DEL RHD 1227A Hetero-zygotes(1.9%),2 case of RhD positive(1.9%),and 2 cases could not be genotyped by the PCR-SSP method(1.9%).Conclusion The molecular mechanism of RHD genotype in RhD negative perinatal women is rich in polymorphism,mainly complete deletion of RHD gene,followed by DEL RHD 1227A homozygous type and RHD-CE(2-9)-D type.