Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACPI) and malate dehydrogenase (MDHI) loci on chromosome 2p

Autor:	W. A. Wasdahl, J. H. Saumur, L. M. Larson, Bruce Aw
Rok vydání:	2008
Předmět:	biology Partial duplication Structural gene Acid phosphatase Chromosome Chromosomal translocation Molecular biology Gene dosage Malate dehydrogenase Biochemistry Genetics biology.protein Gene Genetics (clinical)
Zdroj:	Clinical Genetics. 22:220-225
ISSN:	1399-0004 0009-9163
Popis:	Quantitative studies of erythrocyte acid phosphatase (ACP1) and soluble malate dehydrogenase (MDH1), both assigned to distal chromosome 2p, were performed by colorimetric methods on the red cells of four 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 ACP1 corresponding to the presence of three structural genes. Levels of MDH1 were not increased. Evidence shows that the ACP1 gene is in the region 2p24 leads to 2pter and that MDH is not.
Databáze:	OpenAIRE
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