title: Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia.
abstract: Using direct sequencing we analysed the pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia due to PK deficiency. A novel promoter mutation -249delA relative to the translation initiation site and the common 1529A mutation in exon 11 of the gene could be identified. Reverse transcription (RT)-PCR analysis combined with restriction digestion revealed that the -249delA mutation leads to a reduction in the amount of mRNA produced from this allele to about 6% of normal. We assume that both mutations would account for the PK deficiency in the compound heterozygous patient.
authors.affiliation: Universitäts-Kinderklinik, Göttingen, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Kugler
authors.forename: P
authors.initials: P
authors.lastname: Laspe
authors.forename: M
authors.initials: M
authors.lastname: Stahl
authors.forename: W
authors.initials: W
authors.lastname: Schröter
authors.forename: M
authors.initials: M
authors.lastname: Lakomek
mesh_terms: D000743:Anemia, Hemolytic / Q000235:genetics*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D011770:Pyruvate Kinase / Q000172:deficiency / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D012333:RNA, Messenger; D011770:Pyruvate Kinase