title: Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies.
abstract: To detect the frequency of lactate dehydrogenase (LDH) subunit deficiency, screening for LDH subunit deficiency was performed on 3,776 blood samples from healthy individuals in Shizuoka Prefecture by means of electrophoresis. The frequency of heterozygote with LDH-A subunit deficiency was found to be 0.185%, and with LDH-B subunit deficiency, 0.159%. The frequencies of both subunit deficiencies were not significantly different. Gene frequencies of LDH subunit deficiencies were calculated by the simple counting procedure, and the results are as follows: gene frequency of LDH-A subunit deficiency was 11.9 X 10(-4), and that of LDH-B subunit deficiency, 7.9 X 10(-4). In addition, the second case in the world of a homozygous individual with LDH-A subunit deficiency was detected by this screening. This case with regard to the characteristics of LDH-A subunit deficiency are summarized herein.
mesh_terms: D004912:Erythrocytes / Q000201:enzymology; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D010375:Pedigree
chemical_list: D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase