title: [Serological and genetic study of a pedigree featuring a rare p phenotype].
abstract: OBJECTIVE
  To explore genetic background of a pedigree with a rare p phenotype from Guangdong province.
  
  
  METHODS
  The rare p phenotype was identified by a conventional serologic method. With genomic DNA of proband and family members extracted, exon 3 of alpha-(1,4)galactosyltransferase (A4GALT) gene was amplified with PCR and analyzed by direct sequencing. The mutation found in the pedigree was screened in a normal population using direct sequencing.
  
  
  RESULTS
  The proband and 4 family members with the rare p phenotype have all carried a point mutation c.100G>A (p.Val34Ile) in combination with a deletion-insertional mutation c.418_428del11ins34(p.Gln139Trpfs*72), which renders a compound mutation of A4GALT gene. One family member with P2 phenotype has carried a same heterozygous mutation. Of the 100 healthy donors, 5 have carried a heterozygous point mutation c.100G>A, and none carried the deletion-insertional mutation c.418_428del11ins34.
  
  
  CONCLUSIONS
  The rare p phenotype of the pedigree has resulted from a compound mutation of the A4GALT gene, which is in keeping with a recessive inheritance pattern of the p phenotype.
authors.affiliation: Institute of Blood Transfusion, Guangzhou Blood Center, Guangzhou, Guangdong 510095, P R China.
authors.forename: Ling
authors.initials: L
authors.lastname: Wei
authors.forename: Yan-li
authors.initials: YL
authors.lastname: Ji
authors.forename: Hong
authors.initials: H
authors.lastname: Luo
authors.forename: Chun-yan
authors.initials: CY
authors.lastname: Mo
authors.forename: Run-qing
authors.initials: RQ
authors.lastname: Zhang
authors.forename: Yang
authors.initials: Y
authors.lastname: Zhao
authors.forename: Zhen
authors.initials: Z
authors.lastname: Wang
authors.forename: Guang-ping
authors.initials: GP
authors.lastname: Luo
mesh_terms: D000328:Adult; D001483:Base Sequence; D001788:Blood Grouping and Crossmatching; D005091:Exons; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics; D005838:Genotype; D006801:Humans; D009154:Mutation; D010127:P Blood-Group System / Q000235:genetics* / Q000276:immunology*; D010375:Pedigree; D010641:Phenotype
chemical_list: D010127:P Blood-Group System; D005700:Galactosyltransferases