Rh阴性血型者Del表型和RhD基因的检测

Detection of Del phenotypes and RhD gene in Rh-negative individuals

目的 初步探讨中国汉族人群Rh阴性血型者Del表型与RhD基因之间的关系。方法 对 6 7例血清学方法检测为Rh阴性的供血者样本进行吸收放散试验以检测Del型 ,并扩增RhD基因的外显子 3,4 ,5 ,7,10 ,检测RhD基因存在情况。结果 吸收放散试验表明 6 7例样本中Del型 2 2例 ,占 32 .8% ,非Del型 4 5例 ,占6 7.2 %。在所有表型为ccee,ccEe的 38例RhD(- )个体中 ,Del试验均为阴性 ,RhD基因完全缺失 ;而在表型为Ccee或CcEe的 2 9例RhD(- )个体中 ,2 2例Del试验阳性 ,其中 2 0例携带完整的RhD基因 ,2例有部分RhD基因 ;7例Del试验阴性 ,其中 6例携带部分RhD基因 ,1例D基因完全缺失。结论 中国汉族人群中Rh阴性血型者RhD基因的存在及多态性多由Del引起。

Objective To explore the relationship between RhD gene and Del phenotype in Rh negative Chinese Han population. Methods 67 serologically apparent D negative blood samples were tested for Del phenotypes by using adsorption/elution test and for RhD gene by amplifying exon 3,4,5,7,10 of the RhD gene. Results According to the adsorption/elution test for Del phenotype, 22 samples(32.8%) were positive, 45(67.2%) were negative. All 38 samples which Rh penotype were ccee or ccEe were Del negative, and had total deletion of their RhD genes. While in 29 Ccee or CeEe phenotype samples, 22 were Del positive and 20 carried an intact RHD gene, 2 had partial RHD gene; 7 were Del negative, among which 6 had partial RhD gene and 1 delete all of the RhD gene. Conclusion Majority of RhD gene exsitencs and polymorphisms of Rh negative individuals in Chinese population were caused by Del phenotype.