Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia.
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.
Kugler
W
W
Universitäts-Kinderklinik, Göttingen, Germany.
Laspe
P
P
Stahl
M
M
Schröter
W
W
Lakomek
M
M
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
D012333:RNA, Messenger; D011770:Pyruvate Kinase