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A hypervariable repeated sequence on human chromosome 1p36.

N Buroker1, R Bestwick, G Haight

  • 1Department of Biochemistry, Oregon Health Sciences University, Portland 97201.

Human Genetics
|October 1, 1987
PubMed
Summary
This summary is machine-generated.

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This study identifies a highly polymorphic DNA marker, p1-79, located on human chromosome 1p36. Its variation in copy number suggests it

Area of Science:

  • Human Genetics
  • Molecular Biology
  • Genomics

Background:

  • The human genome contains numerous repetitive DNA sequences.
  • Identifying polymorphic markers is crucial for gene mapping and understanding genetic variation.

Purpose of the Study:

  • To characterize a novel human DNA subclone, p1-79, for its potential as a genetic marker.
  • To investigate the genetic basis and chromosomal localization of polymorphisms detected by p1-79.

Main Methods:

  • Southern blot analysis of human DNA using the p1-79 subclone.
  • Restriction fragment length polymorphism (RFLP) analysis with various enzymes.
  • In situ hybridization and somatic cell hybrid panel analysis for chromosomal localization.
  • DNA sequencing to identify repetitive elements.

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Main Results:

  • The p1-79 subclone revealed extensive polymorphism in unrelated individuals, with distinct patterns observed in each subject.
  • Multiple restriction enzymes demonstrated high variability, while others produced large fragments.
  • Hybridization loci for p1-79 were mapped to human chromosome band 1p36.
  • DNA sequencing identified a 39 bp repeat within p1-79, likely responsible for copy number variation and polymorphisms.
  • Family studies indicated that these polymorphic fragments are inherited as haplotypes with rare recombination.

Conclusions:

  • The p1-79 DNA marker exhibits significant length polymorphisms attributed to copy number variation of a repetitive element.
  • The loci are clustered on chromosome 1p36 and inherited in stable haplotypes.
  • This polymorphic cluster represents a valuable tool for human gene mapping and genetic studies.