title: [A rare p phenotype caused by a 26-bp deletion in α 1,4-galactosyltransferase gene].
abstract: OBJECTIVE
  To delineate serological features and genetic basis for a rare p phenotype of P1Pk blood group system found in a Chinese individual.
  
  
  METHODS
  Serological assaying was carried out for a proband with unexpected antibody found in his serum using specific antibodies and panel cells. Coding regions and flanking introns of α 1,4-galactosyltransferase gene (A4GALT) associated with the p phenotype were screened with polymerase chain reaction and DNA sequencing.
  
  
  RESULTS
  A rare p phenotype of the P1Pk blood group system has been identified with red blood cells from the proband, whose serum contained anti-Tja antibody which can agglutinate and hemolyze with other common red blood cells. Other members of the proband's family were all normal with P1 or P2 phenotype. DNA sequencing has identified in the proband a homozygous 26 bp deletion at position 972 to 997 of the A4GALT gene. The deletion has caused a shift of the reading frame, resulting in a variant polypeptide chain with additional 83 amino acid residues compared with the wild-type protein. Other family members were either heterozygous for above deletion or non-deleted.
  
  
  CONCLUSIONS
  A 26 bp deletion at position 972 to 997 of the A4GALT gene has been identified in a Chinese individual with p phenotype.
authors.affiliation: Institute of Transfusion Medicine, Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou, Zhejiang 310006, P.R. China.
authors.forename: Xianguo
authors.initials: X
authors.lastname: Xu
authors.forename: Xiaozhen
authors.initials: X
authors.lastname: Hong
authors.forename: Kairong
authors.initials: K
authors.lastname: Ma
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Lan
authors.forename: Shu
authors.initials: S
authors.lastname: Chen
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.forename: Yanling
authors.initials: Y
authors.lastname: Ying
authors.forename: Faming
authors.initials: F
authors.lastname: Zhu
authors.forename: Hangjun
authors.initials: H
authors.lastname: Lv
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D005700:Galactosyltransferases / Q000235:genetics*; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D000017:ABO Blood-Group System; D005700:Galactosyltransferases