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Related Experiment Videos

A hypervariable region at the D19S11 locus.

N E Buroker, L Bufton, U Surti

    Human Genetics
    |May 1, 1987
    PubMed
    Summary
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    Researchers identified new RFLPs (restriction fragment length polymorphisms) at the D19S11 locus on chromosome 19. These polymorphisms, detected by probe p13-1-25, offer new tools for genetic studies and disease mapping.

    Area of Science:

    • Human Genetics
    • Molecular Biology
    • Cytogenetics

    Background:

    • The D19S11 locus on chromosome 19p13.2-19cen is known to contain polymorphic RFLPs (restriction fragment length polymorphisms).
    • Previous studies utilized subclones p13-1-82 and p13-2-21 to identify four RFLPs: alpha, beta, delta, and gamma.

    Purpose of the Study:

    • To identify and characterize additional RFLPs at the D19S11 locus.
    • To confirm the chromosomal localization of the D19S11 locus.
    • To assess the allelic diversity and linkage of newly identified RFLPs.

    Main Methods:

    • Screening of cosmid c1-13 subclones to identify new RFLPs.
    • In situ hybridization to determine chromosomal localization.
    • Genotyping of three-generation families to assess linkage.

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  • Analysis of RFLP patterns in unrelated individuals.

    • Main Results:

    • A new subclone, p13-1-25, identified three insertion/deletion RFLPs: alpha, epsilon, and phi, at the D19S11 locus.
    • In situ hybridization confirmed the D19S11 locus is on chromosome 19p.
    • Loci alpha and phi have two common alleles, while epsilon exhibits at least 33 alleles, including a null allele.
    • Unique fragment patterns were observed in 50 unrelated individuals using probe p13-1-25.

    Conclusions:

    • The probe p13-1-25 expands the polymorphic markers available for the D19S11 locus.
    • These new RFLPs are valuable for various applications including paternity testing and disease gene mapping.
    • Potential applications include monitoring chromosome 19 loss in tumorigenesis and bone marrow engraftment.