title: [One base deletion of the alpha(1,4) galactosyltransferase gene responsible for p phenotype].
abstract: OBJECTIVE
  To study the molecular genetic basis for p phenotype.
  
  
  METHODS
  Red blood cell phenotype of the proband was characterized by standard serological technique. Exon 3 of the alpha (1,4) galactosyltransferase gene was amplified by polymerase chain reaction from genomic DNA of the proband. The amplified PCR products were excised and purified from agarose gels and direct sequenced.
  
  
  RESULTS
  Homozygous single nucleotide G deletion at position 300 or 301 was found in the proband, which caused a reading frame shift at codon 101,resulting in a premature stop at codon 113. Parents of the proband were heterozygous carriers.
  
  
  CONCLUSIONS
  A novel single guanosine deletion at position 300 or 301 of alpha (1,4) galactosyltransferase gene was determined, which may be one facet of the molecular basis for p phenotype.
authors.affiliation: Blood Center of Zhejiang Province, Hangzhou, Zhejiang, 310006 PR China. zfm00@hotmail.com
authors.forename: Li-xing
authors.initials: LX
authors.lastname: Yan
authors.forename: Fa-ming
authors.initials: FM
authors.lastname: Zhu
authors.forename: Xian-guo
authors.initials: XG
authors.lastname: Xu
authors.forename: Xiao-zhen
authors.initials: XZ
authors.lastname: Hong
mesh_terms: D005700:Galactosyltransferases / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: D005700:Galactosyltransferases