Article
Population screening of lactate dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutations in the lactate dehydrogenase-B(H) gene.
Human genetics - 1 Jan 1994
Maekawa M, Sudo K, Nagura K, Li S S, Kanno T
Abstract excerpt
Screening for lactate dehydrogenase (LDH) subunit deficiencies was performed on 2880 blood samples from healthy individuals in the Fukuoka Prefecture in Japan by means of electrophoresis. The frequencies of heterozygotes with either LDH-A or LDH-B deficiency were found to be 0.104% at each locus....
Topics
- Amino Acid Sequence
- Base Sequence
- Electrophoresis, Polyacrylamide Gel
- Erythrocytes
- Exons
- Frameshift Mutation
- Genetic Testing
- Humans
- Isoenzymes
- Japan
- L-Lactate Dehydrogenase
- Mass Screening
- Molecular Sequence Data
- Multigene Family
- Mutation
- Polymerase Chain Reaction