Pedigree analysis for the rare RHD DVa allele: serological and molecular studies
  
View Full Text  View/Add Comment  Download reader
DOI:
KeyWord:RHD Va, Del, pedigree analysis
                 
AuthorInstitution
Jingjing Gao Department of Clinical Transfusion, Affiliated Quanzhou First Hospital of Fujian Medical University, Quanzhou 362000, Fujian, China
Xiongpeng Zhu Department of Haematology, Affiliated Quanzhou First Hospital of Fujian Medical University, Quanzhou 362000, Fujian, China
Jinzhe Tan Department of Clinical Transfusion, West China Hospital, West China School of Medicine, Sichuan University, Chengdu 4 610041, Sichuan, China
Mingquan Wang Department of Clinical Transfusion, Affiliated Quanzhou First Hospital of Fujian Medical University, Quanzhou 362000, Fujian, China
Wenqian Xu Department of Clinical Transfusion, Affiliated Quanzhou First Hospital of Fujian Medical University, Quanzhou 362000, Fujian, China
Jhy Sheng Chang Department of Clinical Transfusion, National Taiwan University Hospital, Taipei 100002, Taiwan, China
Hits: 128
Download times: 374
Abstract:
      Until now, worldwide more than 80 different alleles producing weak D phenotypes have been identified. Here we identified rare RHD DVa alleles in Chinese individuals associated with weak expression of D antigen and an RHD phenotype resembling DVI. Multi-monoclonal anti-D antibodies were used to identify the RHD phenotyping for rare RHD DVa. RHD genotyping was used to confirm the presence of RHD exons and identify RHD, RHCE hybrids and exon deficiencies. Sanger sequencing was used to identify nucleotide polymorphisms in RHD exons. Pedigree analysis demonstrated RHD DVa allele alterations of 667 T>G, 676 G>C, 697 G>C, 712 G>A, 733 G>C, 744 C>T and 1227 G>A, which means the proband's alleles were RHD DVa-3 [also called RHD-CE(5)-D] and 1227 G>A. The results also demonstrated RHD DVa and the original RHD Va allele without 1227 G>A. The study suggests that RHD phenotyping is a superior strategy for the molecular analysis of RHD variant in Chinese subjects, and for understanding related polymorphisms and mutations.
Close