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

Autor: Cohen, Patricia T. Wade, Omenn, Gilbert S.
Zdroj: Biochemical Genetics; December 1972, Vol. 7 Issue: 3-4 p303-311, 9p
Abstrakt: 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.
Databáze: Supplemental Index