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A highly polymorphic locus in human DNA.

A R Wyman, R White

    Proceedings of the National Academy of Sciences of the United States of America
    |November 1, 1980
    PubMed
    Summary
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    Researchers identified a highly variable human DNA locus exhibiting restriction fragment length polymorphism. This genetic marker, likely due to DNA rearrangements, shows Mendelian inheritance across generations.

    Area of Science:

    • Human Genetics
    • Molecular Biology
    • Genomics

    Background:

    • Restriction fragment length polymorphism (RFLP) is a technique used to detect variations in DNA sequences.
    • Identifying polymorphic loci is crucial for genetic mapping and understanding human diversity.

    Purpose of the Study:

    • To identify and characterize a novel polymorphic locus in the human genome.
    • To investigate the nature and inheritance patterns of this genetic variation.

    Main Methods:

    • Screening of a human genomic DNA library using a 16-kilobase-pair single-copy DNA segment.
    • Hybridization to Southern transfers of EcoRI-digested human DNA from various individuals and pedigrees.
    • Analysis of fragment lengths to determine allelic variation and inheritance.

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    Main Results:

    • A highly variable locus, not linked to a specific gene, was identified as a site of RFLP.
    • At least eight alleles were detected, with homozygotes comprising less than 25% of individuals.
    • The polymorphism is attributed to DNA rearrangements, not base-pair changes.
    • Family studies confirmed Mendelian inheritance of fragment lengths across three generations.

    Conclusions:

    • A novel, highly polymorphic human DNA locus has been discovered.
    • This locus exhibits significant variation and follows Mendelian inheritance patterns.
    • The findings suggest DNA rearrangements are a source of genetic polymorphism in the human genome.