title: [Molecular genetic analysis of four cases with weak D variant of Rh blood type].
abstract: OBJECTIVE
  To explore the molecular basis of 4 cases with weak D variant of Rh blood type.
  
  
  METHODS
  Routine serological testing was applied to determine the D, C, c, E and e antigens of the Rh blood group. The D antigen was further detected with an indirect antiglobulin test. RHD zygosity was detected by sequence-specific primer PCR method. All exons and flanking intron regions of the RHD gene were sequenced.
  
  
  RESULTS
  The samples were determined as weak D phenotype by serological testing. DNA sequencing showed that the 4 cases were heterozygous for 17C>T mutation in exon 1, 29G>C mutation in exon 1, 1212C>A mutation in exon 9, and IVS4+5G>A mutation in intron 4 of the RHD gene, respectively. According to the rule of Rhesus Base Nomenclature, the 4 samples were respectively named as weak D type 31, weak D type 71, weak D type 72, and weak D type 82.
  
  
  CONCLUSIONS
  Serological and molecular testing for the weak D can facilitate in-depth understanding of its immunology and genetics, and provide guidance for clinical blood transfusion and prevention of hemolytic disease in newborns.
authors.affiliation: Ningbo Central Blood Station, Ningbo, Zhejiang 315000, China. 80625346@qq.com.
authors.forename: Yunlei
authors.initials: Y
authors.lastname: He
authors.forename: Gang
authors.initials: G
authors.lastname: Deng
authors.forename: Deyi
authors.initials: D
authors.lastname: Xu
authors.forename: Wei
authors.initials: W
authors.lastname: Liang
authors.forename: Lu
authors.initials: L
authors.lastname: Yu
mesh_terms: D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen