title: [Molecular basis for an individual with rare p phenotype in P1Pk blood group system].
abstract: OBJECTIVE
  To explore the molecular basis for an individual with rare p phenotype in the P1Pk blood group system.
  
  
  METHODS
  Erythrocyte blood group antigens and antibodies in serum were identified in the proband and five family members with a serological method. Coding regions and flanking untranslated regions of the α1,4-galactosyltransferase gene (A4GALT) encoding P1Pk antigens were amplified with polymerase chain reaction and directly sequenced. The haplotypes of A4GALT in the parents of the proband were also analyzed by cloning sequencing.
  
  
  RESULTS
  The proband was found with a rare p phenotype with anti-Tja antibody in his serum by serological method. The other family members all had a common P2 phenotype. The results of DNA sequencing showed that a cytosine was inserted at nucleotide position 1026 to 1029 (1026_1029insC) of both alleles of the A4GALT gene in the proband. The mutation has caused a reading frame shift and formed a mutant protein by extending 92 amino acid residues. The other family members were either heterozygous for the insertion or of the wild type at above position.
  
  
  CONCLUSIONS
  The 1026_1029insC mutation of the A4GALT gene is probably responsible for the p phenotype identified for the first time in Chinese population. The individual with the p phenotype possesses anti-Tja antibody.
authors: Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research Subordinated to Ministry of Health, Hangzhou, Zhejiang 310006, P.R. China. zfm00@hotmail.com.
authors: Kairong
authors: K
authors: Ma
authors: Xiaofei
authors: X
authors: Lan
authors: Xianguo
authors: X
authors: Xu
authors: Xiaozhen
authors: X
authors: Hong
authors: Shu
authors: S
authors: Chen
authors: Ying
authors: Y
authors: Liu
authors: Yanling
authors: Y
authors: Ying
authors: Ji
authors: J
authors: He
authors: Faming
authors: F
authors: Zhu
authors: Hangjun
authors: H
authors: Lyu
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005260:Female; D016368:Frameshift Mutation; D005700:Galactosyltransferases / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: D000017:ABO Blood-Group System; D005700:Galactosyltransferases; C045097:UDP-galactose-lactosylceramide alpha 1-4-galactosyltransferase