title: [A rare Pk phenotype caused by a 433 C>T mutation of the β-1,3-N-acetylgalactosyltransferase gene].
abstract: OBJECTIVE
  To study the serological characteristics and molecular mechanism for a rare Pk phenotype of the P1Pk blood group system.
  
  
  METHODS
  The blood group of the proband was identified by serological techniques. The coding region and flanking intronic sequences of the β-1,3-N-acetylgalactosyltransferase gene (B3GALANT1) associated with the Pk phenotype were analyzed using polymerase chain reaction sequence-based typing.
  
  
  RESULTS
  The proband was identified as having a rare Pk phenotype including anti-P in her serum. The blood group of her daughter and husband showed a P2 phenotype. The nucleotide sequences of the B3GALANT1 gene of her husband and two randomly-chosen individuals were the same as the reference sequence (GenBank AB050855). Nucleotide position 433 C>T homozygous mutation in the B3GALANT1 was found in the proband, which has resulted in a stop codon at amino acid position 145, which may produce a premature protein capable of decreasing or inhibiting the activity of the β -1,3-N-acetylgalactosyltransferase. The nucleotide position 433 C/T heterozygous in the B3GALANT1 was found in her daughter.
  
  
  CONCLUSIONS
  The Pk phenotype resulted from 433 C>T mutation in the B3GALANT1 gene has been identified.
authors.affiliation: Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou, Zhejiang 310006, P.R.China. zfm00@hotmail.com.
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Lan
authors.forename: Xiaozhen
authors.initials: X
authors.lastname: Hong
authors.forename: Xianguo
authors.initials: X
authors.lastname: Xu
authors.forename: Shu
authors.initials: S
authors.lastname: Chen
authors.forename: Kairong
authors.initials: K
authors.lastname: Ma
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.forename: Ji
authors.initials: J
authors.lastname: He
authors.forename: Faming
authors.initials: F
authors.lastname: Zhu
authors.forename: Hangjun
authors.initials: H
authors.lastname: Lyu
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D001788:Blood Grouping and Crossmatching; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
chemical_list: D000017:ABO Blood-Group System; C585979:B3GALNT1 protein, human; D017350:N-Acetylgalactosaminyltransferases