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Population studies on human phosphoglucomutase-1 thermostability polymorphism.

R Scozzari, C Iodice, D Sellitto

    Human Genetics
    |January 1, 1984
    PubMed
    Summary
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    Genetic variations in the PGM1 gene were analyzed in Czech and Italian populations. Allele frequencies revealed significant population differences, with PGMts1 alleles showing a North-South cline in Italy.

    Area of Science:

    • Human Population Genetics
    • Molecular Anthropology
    • Biochemical Genetics

    Background:

    • The phosphoglucomutase 1 (PGM1) locus exhibits genetic polymorphisms detectable through electrophoretic and thermostability methods.
    • Understanding the distribution of PGM1 alleles is crucial for population genetics studies and tracing human migration patterns.

    Purpose of the Study:

    • To investigate the electrophoretic and thermostability polymorphisms of the PGM1 locus in Czechoslovakian and diverse Italian populations.
    • To analyze the allele frequencies and linkage disequilibrium patterns within the PGM1 gene across these populations.

    Main Methods:

    • Electrophoresis and thermostability assays were employed to examine PGM1 genetic variation.
    • Population samples included approximately 700 individuals from Prague (Czechoslovakians) and 3000 individuals from various regions of Italy (Pavia, Viareggio, Rome, Naples).

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    Main Results:

    • Eight PGM1 alleles were identified and analyzed, considering combinations of mutations at three distinct sites within the PGM1 gene.
    • Significant pairwise genetic differences were observed between most population samples, with exceptions between Pavia-Viareggio and Viareggio-Rome.
    • The frequencies of PGMts1 alleles demonstrated a North-South cline across the Italian peninsula, ranging from 0.0981 in Prague to 0.0546 in Naples.

    Conclusions:

    • The study highlights significant genetic differentiation in PGM1 allele frequencies between Czechoslovakian and Italian populations, and within Italy itself.
    • The observed North-South cline of PGMts1 alleles suggests potential historical demographic processes or selective pressures acting on this locus in Italy.