中国人Rh部分D表型的分子机理研究

为了研究部分D表型的分子机理,用间接抗人球蛋白方法（IAT）筛选弱表达的D变异体,PCR-SSP（polymerase chain reaction-sequence sepecific primer）方法扩增RHD基因特异的外显子及其侧翼序列,用PCR产物直接序列分析测定核苷酸的变异.结果表明：从22例弱D中检测到10例部分D表型,其中D Va（Kou.）、D Va（Hus.）和D Va-like（YH.）各1例,D Ⅵ typeⅢ表型7例.结论：10例部分D表型的分子机理得到明确,其中D Va（Kou.）、D Va-like（YH.）表型为国内首次报道.

Molecular Basis of Partial D Phenotypes in Chinese

To investigate the molecular basis of partial D phenotypes in Chinese, D variants with weak D expression was screened by using indirect anti-human globulin test (IAT) method, the polymerase chain reaction-sequence specific primer (PCR-SSP) method was employed to amplify RHD specific exons and their flanking regions. The amplification products were sequenced directly to determine the molecular basis of D variants. The results showed that ten cases of partial D phenotypes, including one case of D Va (Kou.), one case of D Va (Hus.), one case of D Va-like (YH.), and seven cases of D VI type III, were detected from 22 cases of weak D phenotype respectively. All ten cases of partial D phenotypes had one RHD allele deleted. In conclusion, the molecular basis of ten cases of partial D phenotype was confirmed, including D Va (Kou.) and D Va-like (YH.) phenotypes reported firstly in Chinese population.