Summary
Gene dosage effects for soluble isocitrate dehydrogenase (IDH1) were investigated in four unrelated cases with abnormalities involving the long arm of chromosome 2. Case 1 was trisomic for 2q33.3→qter, Case 2 monosomic for 2q33.3→q35, Case 3 trisomic for 2q11.2→q24.2, and Case 4 monosomic for 2q23→q24.2. These abnormalities were de novo except in Case 1, where trisomy 2q resulted from a maternal translocation. The red cell IDH1 levels were significantly reduced in Cases 1 (41.4% of normal value) and 2 (51.9%), while they were normal in Cases 3 and 4. The low IDH1 level also in the father of Case 1 (43.6%), together with the common electrophoretic phenotype of IDH1 in red cells as well as leukocytes, led us to suppose that Case 1 was really heterozygous for common and probable null alleles, and that the IDH1 gene locus could be excluded from 2q33.3→qter. On the other hand, normal IDH1 values in the parents of Case 2 were consistent with the hemizygosity for this locus in Case 2. The results suggested that the IDH1 locus could be assigned to the 2q33.3 band, especially the proximal portion of it.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Bergmeyer HU, Bernt E (1974) Malate dehydrogenase and isocitrate dehydrogenase. In: Bergmeyer HU (ed) Methods of enzymatic analysis. Academic Press, New York, pp 613–623, 624–631
Beutler E (1975) Red cell metabolism: A manual of biochemical methods, 2nd edn. Grune and Stratton, New York, pp 8–11, 63–64, 66–69
Chen S-H, Fossum BLG, Biblett ER (1972) Genetic variation of the soluble forms of NADP-dependent isocitric dehydrogenase in man. Am J Hum Genet 24:325–329
Hamerton JL, Mohandas T, McAlpine PJ, Douglas GR (1975) Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids. Am J Hum Genet 27:595–608
Harris H, Hopkinson DA (1976) Handbook of enzyme electrophoresis in human genetics. North Holland Publishing Company, Amsterdam
Hopkinson DA, Spencer N, Harris H (1964) Genetical studies on human red cell acid phosphatase. Am J Hum Genet 16:141–154
Ikeuchi T, Sasaki M (1979) Accumulation of early mitotic cells in ethidium bromide-treated human lymphocyte cultures. Proc Japan Acad 55:15–18
Jansen M, Beemer FA, Van der Heiden C, Van Hemel JO, Van den Brande JL (1982) Ring chromosome 2: Clinical, chromosomal, and biochemical aspects. Hum Genet 60:91–95
Takahashi Y, Narahara K, Kikkawa K, Wakita Y, Kimura S, Kasai R, Kimoto H (to be published) Interstitial deletion of the long arm of chromosome 2. Jinrui Idengaku Zasshi
Turner BM, Fisher RA, Carthwaite E, Whale RJ, Harris H (1974) An account of two new ICD-S variants not detectable in red cells. Ann Hum Genet 37:469–476
Weil D, Van-Cong N, Finaz C, Rebourcet R, Cochet C, de Grouchy J, Frézal J (1977) Localization régionale des gènes humains IDHs, MDHs, PGK, α-GAL, G6PD par l'hybridization cellulaire interspécifique. Hum Genet 36:205–211
Wyandt HE, Kasprzak R, Lamb A, Wilson K, Wilson WG, Kelly TE (1982) Human chromosome 2 rod/ring mosaicism: Probable origin by prezygotic breakage and intrachromosomal exchange. Cytogenet Cell Genet 33:222–231
Zankl M, Schwanitz G, Schmid P, Zankl H, Dockter G, Rodewald A, Zang KD, Grosse KP (1979) Distal 2q duplication: Report of two familial cases and an attempt to define a syndrome Am J Med Genet 4:5–16
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Narahara, K., Kimura, S., Kikkawa, K. et al. Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3. Hum Genet 71, 37–40 (1985). https://doi.org/10.1007/BF00295665
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00295665