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A locus on chromosome 11p with multiple restriction site polymorphisms.

D Barker, T Holm, R White

    American Journal of Human Genetics
    |November 1, 1984
    PubMed
    Summary

    Researchers identified a new genetic marker, D11S12, on chromosome 11p. This polymorphic locus, with four common restriction sites, shows significant linkage disequilibrium, aiding in genetic mapping.

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    Area of Science:

    • Human Genetics
    • Molecular Biology
    • Population Genetics

    Background:

    • Characterization of polymorphic loci is crucial for genetic mapping and understanding human genetic variation.
    • Chromosome 11p harbors important genes, making its polymorphic markers valuable for linkage analysis.

    Purpose of the Study:

    • To discover and characterize a novel polymorphic locus on chromosome 11p, designated D11S12.
    • To determine the haplotype frequencies and linkage disequilibrium patterns within this new locus in a human population.
    • To construct a molecular map of the D11S12 locus and assess its polymorphic information content (PIC).

    Main Methods:

    • Isolation and characterization of a new polymorphic locus (D11S12) using a genomic DNA probe (pADJ762).
    • Southern hybridization analysis to identify polymorphic restriction sites (MspI, TaqI, BclI) in human DNA.
    • Haplotype frequency determination and linkage disequilibrium analysis in a Utah population.

    Main Results:

    • Discovery of the D11S12 polymorphic locus on chromosome 11p, defined by four common restriction sites (minor allele frequencies >5%).
    • Significant linkage disequilibrium observed between certain polymorphic sites, with unusual patterns relative to physical distance.
    • A molecular map was established, and the locus exhibits a polymorphic information content (PIC) of 0.64, with four major haplotypes.

    Conclusions:

    • The D11S12 locus is a valuable new genetic marker for chromosome 11p, suitable for linkage studies.
    • Observed linkage disequilibrium patterns provide insights into the fine-scale genetic structure of this chromosomal region.
    • The locus's high PIC value and common haplotypes make it informative for population genetics and genetic mapping.

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