Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase.
Novel erythrocyte pyruvate kinase gene defects were found in a patient without a family history of consanguinity. The polymerase chain reaction products of the R-type pyruvate kinase cDNA from the propositus contained two point mutations of Ser80 (TCC)-->Pro (CCC) and Arg490 (CGG)-->Trp (TGG). Allele-specific polymerase chain reaction of the genomic DNA revealed that this patient was a compound heterozygote. The mobilities of the patient's L- and R-type pyruvate kinase by thin-layer polyacrylamide gel electrophoresis were abnormal. The results are consistent with the fact that these mutations are within exons common to the hepatic and erythrocyte isozymes.
Uenaka
R
R
Second Department of Internal Medicine, Osaka University Medical School, Japan.
Nakajima
H
H
Noguchi
T
T
Imamura
K
K
Hamaguchi
T
T
Tomita
K
K
Yamada
K
K
Kuwajima
M
M
Kono
N
N
Tanaka
T
T
D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D003241:Consanguinity; D017931:DNA Primers; D018076:DNA, Complementary; D004591:Electrophoresis, Polyacrylamide Gel; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007527:Isoenzymes / Q000097:blood / Q000235:genetics* / Q000302:isolation & purification; D008099:Liver / Q000201:enzymology*; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011392:Proline; D011770:Pyruvate Kinase / Q000097:blood / Q000235:genetics* / Q000302:isolation & purification; D012333:RNA, Messenger / Q000096:biosynthesis; D015183:Restriction Mapping; D012694:Serine; D014364:Tryptophan
D017931:DNA Primers; D018076:DNA, Complementary; D007527:Isoenzymes; D012333:RNA, Messenger; D012694:Serine; D014364:Tryptophan; D001120:Arginine; D011392:Proline; D011770:Pyruvate Kinase