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Mitochondrial malic enzyme in human leukocytes.

G Siebert, A Amorim

    Human Heredity
    |January 1, 1987
    PubMed
    Summary
    This summary is machine-generated.

    Malic enzyme (MEM) activity was analyzed in blood donors. The common MEM1 allele frequency was 0.63, with evidence suggesting a rare MEM4 allele exists.

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    Area of Science:

    • Biochemistry
    • Human Genetics
    • Population Genetics

    Background:

    • Malic enzyme (MEM) is a key enzyme in cellular metabolism.
    • Understanding the genetic variation of MEM is important for population genetics studies.

    Purpose of the Study:

    • To investigate the genetic polymorphism of malic enzyme (MEM) in a human population.
    • To determine the allele frequencies of MEM in a cohort of blood donors.

    Main Methods:

    • Screening of leukocyte samples from 316 unrelated blood donors.
    • Analysis of malic enzyme (MEM) phenotypes to infer genotypes.

    Main Results:

    • The frequency of the common allele, MEM1, was determined to be 0.63.
    • Evidence was found suggesting the existence of a rare fourth allele, designated MEM4.

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    Conclusions:

    • The study provides data on the genetic variation of malic enzyme in the human population.
    • The identification of a rare MEM4 allele warrants further investigation.