Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACPI) and malate dehydrogenase (MDHI) loci on chromosome 2p
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 22 (4) , 220-225
- https://doi.org/10.1111/j.1399-0004.1982.tb01437.x
Abstract
Quantitative studies of erythrocyte acid phosphatase (ACPl) and soluble malate dehydrogenase (MDHl), both assigned to distal chromosome 2p, were performed by colorimetric methods on the red cells of 4 patients in an attempt to demonstrate a gene dosage effect. The patients inherited the unbalanced form of a familial reciprocal translocation, t(2;10)(p24;q26), and had partial duplication 2p. Parents of all patients and siblings of some were included in the study. All patients had increased levels of ACPl corresponding to the presence of 3 structural genes. Levels of MDHl were not increased. The ACPl gene is in the region 2p24 .fwdarw. 2 pter and that MDH is not.Keywords
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