title: [Molecular genetic analysis of two individuals with Bw subtypes of ABO variant].
abstract: OBJECTIVE
  To investigate the molecular characteristics of Bw subgroup of ABO variant.
  
  
  METHODS
  Two individuals with Bw phenotypes were confirmed by standard serological assays. ABO genotype was analyzed with polymerase chain reaction-sequence specific primer (PCR-SSP) method. Exons 6-7 of B genes were amplified by specific PCR, and the PCR product was subjected to direct sequencing.
  
  
  RESULTS
  The probands were identified as Bw phenotype by serological assays. As detected by PCR-SSP, the genotypes of the two probands were both B/O2. Compared with the wild-type B101, the B allele in one individual has harbored a missense mutation (C721T) in exon 7, which resulted in an amino acid substitutions (R241S). In the second individual, the B allele has harbored a missense mutation (C278T) in exon 6, which also resulted in an amino acid substitution (P93L).
  
  
  CONCLUSIONS
  A Bw03 allele and a Bw12 allele were identified, which resulted in varied intensity of B antigen expression.
authors: 2B 96K Seven-Year Program, China Medical University, Shenyang, Liaoning 110001, P.R. China. sandra_zx@163.com.
authors: Gui-ji
authors: GJ
authors: Li
authors: Xu
authors: X
authors: Zhang
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D001789:Blood Group Antigens / Q000235:genetics*; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: D000017:ABO Blood-Group System; D001789:Blood Group Antigens