title: [Pedigree investigation and genetic analysis of a case with p blood group].
abstract: OBJECTIVE
  To explore the molecule basis of a p blood group in a patient with gastric carcinoma.
  
  
  METHODS
  The p phenotype was determined with serological method. Inheritance of the p phenotype was investigated by pedigree analysis. Sequence of α-1,4- galactosyltransferase (A4GALT) gene was determined by Sanger method.
  
  
  RESULTS
  The proband and his younger brother were both determined to have a p phenotype. Two homozygous variations, c.343A>T (AAA>TAA) and c.903C>G (CCC>CCG), have been detected in exon 3 of the A4GALT gene. Among these, c.343 A>T (AAA>TAA) was a novel mutation, which has resulted in a termination codon, with which no normal product of the gene can be produced. c.903C>G was determined to be a polymorphism.
  
  
  CONCLUSIONS
  A novel c.343A>T mutation in the A4GALT gene probably underlies the p phenotype, to which a Genbank access number KC202808 has been assigned.
authors: Jiangsu Province Blood Center, Nanjing, Jiangsu 210042, P.R. China. lyc60@126.com; jscdcsjvip@vip.sina.com.
authors: Yan-chun
authors: YC
authors: Liu
authors: Ling
authors: L
authors: Zheng
authors: Yi
authors: Y
authors: Liu
authors: Min-hui
authors: MH
authors: Wu
authors: Ling
authors: L
authors: Ma
authors: Peng
authors: P
authors: Wei
authors: Jun
authors: J
authors: Sun
mesh_terms: D001789:Blood Group Antigens / Q000235:genetics*; D005700:Galactosyltransferases / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D013274:Stomach Neoplasms / Q000097:blood* / Q000235:genetics
chemical_list: D001789:Blood Group Antigens; D005700:Galactosyltransferases; C045097:UDP-galactose-lactosylceramide alpha 1-4-galactosyltransferase