Population and biochemical genetics of the human mitochondrial malic enzyme.

Ann Hum Biol

Departments of Human Genetics and Pathology, University of Newcastle upon Tyne, U.K.

Published: October 1989

The phenotypic variation of the mitochondrial malic enzyme (MEM) was examined in 121 brains and 46 heart tissue samples from the population of north-east England. There was no difference in gene frequency distribution between sexes and the two tissues. However, a significant variation has been observed in males compared with a Scottish study. The three common phenotypes of brain were partially purified on a DEAE Sephadex column. The kinetics, heat stability and dicumarol inhibition studies show no biochemical advantage for any of the phenotypes in human brain. The extensive polymorphism of MEM suggests a possible, yet unknown, selective factor for the spread of this polymorphism. With the existing evidence of regional and racial differences, the role of random genetic drift cannot be ruled out.

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http://dx.doi.org/10.1080/03014468900000492DOI Listing

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