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.
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.
These estimated frequencies of either LDH-A or LDH-B deficiency were slightly lower than, but not significantly different from, those found previously in Shizuoka Prefecture.
The genetic mutations in individuals heterozygous for LDH-B deficiency were analyzed by the polymerasse chain reaction and DNA conformation polymorphism.
Mots-clés Pascal : Déficit, L-Lactate dehydrogenase, Oxidoreductases, Enzyme, Homme, Dépistage, Japon, Asie, Mutation, Fréquence génique, Diagnostic, Isozyme, Enzymopathie, Métabolisme pathologie
Mots-clés Pascal anglais : Deficiency, L-Lactate dehydrogenase, Oxidoreductases, Enzyme, Human, Medical screening, Japan, Asia, Mutation, Gene frequency, Diagnosis, Isozyme, Enzymopathy, Metabolic diseases
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 94-0122162
Code Inist : 002B22D02. Création : 199406.