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Related Experiment Videos

DNA length polymorphism located 5' to the human myelin basic protein gene.

K B Boylan, N Takahashi, M Diamond

    American Journal of Human Genetics
    |May 1, 1987
    PubMed
    Summary

    Researchers identified a DNA region near the human myelin basic protein (MBP) gene with significant restriction-fragment-length polymorphism (RFLP). This genetic variation, likely due to insertions or deletions, shows Mendelian inheritance patterns.

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    Area of Science:

    • Genetics
    • Molecular Biology
    • Human Genetics

    Background:

    • The human myelin basic protein (MBP) gene is crucial for myelin sheath formation in the central nervous system.
    • Genetic variations in regulatory regions can impact gene expression and function.
    • Understanding DNA polymorphism aids in genetic mapping and disease association studies.

    Purpose of the Study:

    • To characterize a restriction-fragment-length polymorphism (RFLP) upstream of the human MBP gene.
    • To determine the nature and frequency of this DNA variation.
    • To assess the inheritance pattern of the identified polymorphism.

    Main Methods:

    • Southern transfer analysis using a genomic fragment of the human MBP gene's first exon.
    • Restriction enzyme digestion with at least nine enzymes to detect polymorphism.

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  • Double restriction-enzyme digest analysis to localize the polymorphic region.
  • Pedigree analysis in a three-generation family to study inheritance.

    • Main Results:

    • A polymorphic region was identified 0.5-2.0 kb upstream of the human MBP gene's first exon.
    • The polymorphism, showing 37% heterozygosity in 40 subjects, is attributed to insertions/deletions.
    • Eleven distinct allelic RFLPs were observed, with size variations up to 450 bp.
    • Pedigree analysis confirmed Mendelian inheritance of parental haplotypes.

    Conclusions:

    • The identified RFLP site near the human MBP gene exhibits significant variation due to insertions/deletions.
    • The polymorphism's characteristics and frequency resemble those of human DNA regions with short tandem repeats.
    • This RFLP serves as a useful genetic marker for the human MBP gene locus on chromosome 18.