蚌埠地区124例RhD阴性献血者的RHCE表型及DEL型的分布与基因研究

目的研究蚌埠地区RhD阴性献血者的RHCE表型，DEL的表型、分布和RHD基因的外显子存在情况。方法通过使用抗-D（IgM）试剂筛查出RhD（IgM）阴性献血者；再使用3个厂家或不同批号的抗-D（IgG）试剂，经间接抗人球蛋白试验（IAT）确认RhD阴性样本；然后采用吸收放散试验筛选其中的DEL型，同时检测其表现型，并对15份DEL型样本采用PCR方法进行基因扩增和产物分析。结果124例RhD阴性献血者中ccee表型为77例（62．1％），Ccee为38例（30．6％），CCee为8例（3．3％），ccEe为1例（0．1％）；DEL型共15例占RHD阴性样本的12．1％，其中ccee2例，Ccee11例，Ccee2例；并检测出15例DEL型样本的5、4、5、6、7、9、10共7个特异性外显子。结论蚌埠地区RhD阴性献血者中Rh表型存在多态性，eeee表型的比例达62．1％；DEL型的比例低于相关报道，DEL型具有全部RHD基因外显子。

Distribution of RHCE phenotype and DEL phenotype in 124 RhD negative donors from Bengbu area and RHD

Objective To study the distribution of RHCE phenotype and DEL phenotype in RhD negative donors in Beng- bu area,and analyze the exons of RHD gene. Methods RhD（IgM） negative donors were screened out by using anti-D （IgM） reagents. Then RhD negative samples were confirmed by indirect anti-human globulin test（IAT） using 3 different manufacturers or batches of anti-D（IgG） reagents. The donors with DEL phenotype were screened out with absorption-elu- tion tests and their RHCE phenotypes were also detected. 15 samples of DEL phenotype were chosen out for gene amplifi- cation and product analysis with PCR. Results Among 124 cases of RhD （IgM） negative donors, there were 77 （62.1% ） cases of ccee phenotype ,38 （ 30. 6% ） cases of Ccee phenotype,8（3.3% ） cases of CCee phenotype and 1 （0.1%） case of ccEe phenotype. 15 cases of DEL phenotype including 2 cases of ccee, 11 cases of Ccee and 2 cases of CCee were found, accounting for 12.1% of all RhD negative samples. 7 specific exons （ 3,4,5,6,7,9 and 10） were found in each sample of 15 cases of DEL phenotype. Conclusion RHCE phenotypes of RhD negative donors in Bengbu area are poly- morphic and the ratio of ccee phenotype reaches to 62.1%. The ratio of DEL phenotype is lower than the past related re- ports and DEL phenotype samples contain RhD gene. Moreover, DEL has all the exons of RHD gene.