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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1984 Nov;36(6):1204–1214.

Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies.

M Maekawa, S Kanda, K Sudo, T Kanno
PMCID: PMC1684635  PMID: 6517049

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Boone C., Chen T. R., Ruddle F. H. Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids (thymidine kinase-lactate dehydrogenase A-isocitrate dehydrogenase-C-11, E-17, and F-20 chromosomes). Proc Natl Acad Sci U S A. 1972 Feb;69(2):510–514. doi: 10.1073/pnas.69.2.510. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Chen T. R., McMorris F. A., Creagan R., Ricciuti F., Tischfield J., Ruddle F. Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man. Am J Hum Genet. 1973 Mar;25(2):200–207. [PMC free article] [PubMed] [Google Scholar]
  3. Kanno T., Sudo K., Takeuchi I., Kanda S., Honda N., Nishimura Y., Oyama K. Hereditary deficiency of lactate dehydrogenase M-subunit. Clin Chim Acta. 1980 Dec 8;108(2):267–276. doi: 10.1016/0009-8981(80)90013-3. [DOI] [PubMed] [Google Scholar]
  4. Kitamura M., Iijima N., Hashimoto F., Hiratsuka A. Hereditary deficiency of subunit H of lactate dehydrogenase. Clin Chim Acta. 1971 Oct;34(3):419–423. doi: 10.1016/0009-8981(71)90095-7. [DOI] [PubMed] [Google Scholar]
  5. Markert C. L., Møller F. MULTIPLE FORMS OF ENZYMES: TISSUE, ONTOGENETIC, AND SPECIES SPECIFIC PATTERNS. Proc Natl Acad Sci U S A. 1959 May;45(5):753–763. doi: 10.1073/pnas.45.5.753. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Mohrenweiser H. W. Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5046–5050. doi: 10.1073/pnas.78.8.5046. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Mohrenweiser H. W., Novotny J. E. An enzymatically inactive variant of human lactate dehydrogenase-LDHBGUA-1. Study of subunit interaction. Biochim Biophys Acta. 1982 Mar 18;702(1):90–98. doi: 10.1016/0167-4838(82)90030-9. [DOI] [PubMed] [Google Scholar]
  8. Neel J. V., Kodani M., Brewer R., Anderson R. C. The incidence of consanguineous matings in Japan, with remarks on the estimation of comparative gene frequencies and the expected rate of appearance of induced recessive mutations. Am J Hum Genet. 1949 Dec;1(2):156–178. [PMC free article] [PubMed] [Google Scholar]
  9. Satoh C., Neel J. V., Yamashita A., Goriki K., Fujita M., Hamilton H. B. The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes. Am J Hum Genet. 1983 Jul;35(4):656–674. [PMC free article] [PubMed] [Google Scholar]
  10. Shioya M., Yanagisawa M., Kawamura T., Kanno T. [Separation of LDH isoenzymes by cellulose acetate (Cellogel)]. Rinsho Byori. 1971 Jul;19(7):469–472. [PubMed] [Google Scholar]
  11. Tanis R. J., Neel J. V., Torres de Arauz R. Two more "private" polymorphisms of Amerindian tribes: LDHb GUA-1 and ACP1 B GUA-1 in the Guaymi in Panama. Am J Hum Genet. 1977 Sep;29(5):419–430. [PMC free article] [PubMed] [Google Scholar]
  12. WROBLEWSKI F., LADUE J. S. Lactic dehydrogenase activity in blood. Proc Soc Exp Biol Med. 1955 Oct;90(1):210–213. doi: 10.3181/00379727-90-21985. [DOI] [PubMed] [Google Scholar]

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