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Human malic enzyme: High-frequency polymorphism of the mitochondrial form


Polymorphic variation of the human mitochondrial malic enzyme was detected in Caucasians and Negroes. The frequencies of the two alleles determining the three mitochondrial malic enzyme phenotypes were 0.69 and 0.31 in the Caucasian sample and 0.82 and 0.18 in the much smaller Negro sample. The distribution of phenotype frequencies among the 85 Caucasian males shows a significant deviation from Hardy-Weinberg equilibrium proportions. Two interconvertible forms of the cytoplasmic malic enzyme are described in human brain tissue, together with one variant in 132 Caucasian individuals.

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This study was supported by grant GM 15253 from the National Institutes of Health and by Institutional Cancer Grant IN-26 from the American Cancer Society. One of us (G.S.O.) is a National Genetics Foundation Fellow; formerly Special Fellow, U.S. Public Health Service (5F3-HD 43,122-02).

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Cohen, P.T.W., Omenn, G.S. Human malic enzyme: High-frequency polymorphism of the mitochondrial form. Biochem Genet 7, 303–311 (1972).

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