Article
Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant.
Human genetics - 1 May 1992
Sudo K, Maekawa M, Tomonaga A, Tsukada T, Nakayama T, Kitamura M, Li S S, Kanno T, Toriumi J
Abstract excerpt
We have previously detected a single base substitution of G by A at the Arg codon CGC in exon 4 of the mutant lactate dehydrogenase (LDH) gene, an unstable LDH-B variant (case 1). Here, we use the polymerase chain reaction (PCR) to amplify genomic DNA of two cases (the original case 1 and a new patient, case 2). We were able to confirm that case 1 is homozygous for the mutation, causing a replacement of the...
Topics
- Amino Acid Sequence
- Base Sequence
- Genetic Variation
- Humans
- Isoenzymes
- L-Lactate Dehydrogenase
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Pedigree