1. Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase.
- Author
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Uenaka R, Nakajima H, Noguchi T, Imamura K, Hamaguchi T, Tomita K, Yamada K, Kuwajima M, Kono N, and Tanaka T
- Subjects
- Adult, Alleles, Amino Acid Sequence, Arginine, Base Sequence, Consanguinity, DNA Primers, DNA, Complementary, Electrophoresis, Polyacrylamide Gel, Female, Humans, Isoenzymes blood, Isoenzymes isolation & purification, Male, Molecular Sequence Data, Polymerase Chain Reaction methods, Proline, Pyruvate Kinase blood, Pyruvate Kinase isolation & purification, RNA, Messenger biosynthesis, Restriction Mapping, Serine, Tryptophan, Erythrocytes enzymology, Heterozygote, Isoenzymes genetics, Liver enzymology, Point Mutation, Pyruvate Kinase genetics
- Abstract
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.
- Published
- 1995
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