表型为CC或Cc19名RhD(-)中国无关供血者中的RHD基因多态性

目的：探讨ＲｈＤ（－）中国无关供血者中ＲＨＤ基因的基因构成情况。方法：采用ＰＣＲ－ＳＳＰ方法对３４名ＲｈＤ（－）的中国供血者的基因组ＤＮＡ进行研究。主要扩增ＲＨＤ基因外显子２、３、４、５、６、７、９、１０和内含子４以及ＲＨＣＥ基因内含子４。结果：３４名ＲｈＤ（－）中国供血者的ＲｈＣｃＥｅ表型为４例ＣＣｅｅ，１５例Ｃｃｅｅ和１４例ｃｃｅｅ及１例ｃｃＥｅ。在所有表型为ｃｃｅｅ或ｃｃＥｅ的１５例ＲｈＤ（－）个体中，ＲＨＤ基因完全缺失；而在表型为ＣＣｅｅ或Ｃｃｅｅ的１９例ＲｈＤ（－）个体中，ＲＨＤ基因则表现出多态性：８名供血者存在大量正常的ＲＨＤ基因，占４２．１１％；７名供血者表现为部分缺失，占３６．８４％；４名供血者则完全缺失ＲＨＤ基因，占２１．０５％。其中，７名部分缺失均为同一中间缺失，只存在外显子１、２和３非编码区。ＲｈＤ（－）个体携带或部分携带ＲＨＤ基因的表型为ＣＣｅｅ或Ｃｃｅｅ，而无ｃｃｅｅ。结论：在表型为ＣＣ或Ｃｃ的中国供血者中观察到３种ＲＨＤ基因多态性，提示ＲｈＤ（－）个体携带或部分携带ＲＨＤ基因与ＲｈＣ阳性之间有某种关系。因此，将ＲＨＤ基因定型结果应用于临床医学时应特别注意。

RHD Gene Polymorphisms among 19 RhD negative Chinese Blood Donors with Rhesus CCee or Ccee Phenotypes

Objective:To explore the genomic structure of the RhD gene among RhD negative unrelated Chinese blood donors in China.Methods:Genomic DNA from 34 samples of RhD negative Chinese blood donors was studied using the PCR SSP method.These PCR methods amplified RHD gene at exons 2、3、4、5、6、7、9、10 and at introm 4 and RHCE gene at intron 4.Results:RhD negative phenotypes consisted of 4 CCee,15 Ccee,14 ccee and 1 ccEe.The RHD gene is completely absent in RhD negative Chinese with Rhesus ccee or ccEe,while the CCee or Ccee phenotypes showed three RHD polymorphisms:8(42.11%) donors demonstrated the presence of the RHD gene,7(36.84%) donors were shown to have a partially deletion of the RHD (exon3～9) and 4(21.05%) donors had total deletion of their RHD genes.Among them,all the 7 donors were the same internal deletion of the RHD which only have a preserved 3 noncoding region of the RHD exon 10 and exon 1,2.The phenotypes of these donors with the RHD gene were CC or Cc,but not cc.Conclusion:Three classes of RHD gene polymorphisms among Chinese blood donors with CCee or Ccee phenotypes in China were observed,whichf suggested that there is some relationship between the RHD gene and the RhC phenotypes in RhD negative individuals.Careful attention is necessary to apply RHD genotyping to clinical medicine.