title: Identification and characterization of an inherited mutation of PIG-A in a patient with paroxysmal nocturnal haemoglobinuria.
abstract: Analysis of the X-linked gene PIG-A from haemopoietic cells of a female PNH patient showed a homozygous C-55-T substitution that caused replacement of arginine with tryptophan at codon 19. Aval restriction analysis of PIG-A cDNA demonstrated that the patient was homozygous for this mutation, whereas her mother was heterozygous and her father was hemizygous. Flow cytometry, however, showed normal expression of glycosyl phosphatidylinositol anchored proteins on blood cells of the patient's mother and father. Therefore the C-55-T mutation is an inherited sequence variant that does not account for the PNH phenotype of this patient.
authors.affiliation: Department of Medicine, University of Utah School of Medicine, Salt Lake City, USA.
authors.forename: M
authors.initials: M
authors.lastname: Endo
authors.forename: R E
authors.initials: RE
authors.lastname: Ware
authors.forename: T M
authors.initials: TM
authors.lastname: Vreeke
authors.forename: T A
authors.initials: TA
authors.lastname: Howard
authors.forename: C J
authors.initials: CJ
authors.lastname: Parker
mesh_terms: D004247:DNA / Q000032:analysis; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009504:Neutrophils; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D008565:Membrane Proteins; C080086:phosphatidylinositol glycan-class A protein; D004247:DNA