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Highly polymorphic tetramer repeat (GATA)n on human chromosome 11p15.3

M W Gen1, P J Parry, Y Ning

  • 1Molecular Genetics Laboratory, Salk Institute for Biological Studies, La Jolla, California 92037.

Genomics
|September 1, 1993
PubMed
Summary
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Researchers identified a highly polymorphic (GATA)n DNA repeat sequence on chromosome 11p15.3. This genetic marker is inherited predictably and useful for disease gene studies and identity testing.

Area of Science:

  • Genetics
  • Molecular Biology
  • Genomic Research

Background:

  • Chromosome 11p15.3 is a critical region for disease gene localization.
  • Identifying polymorphic markers is essential for genetic mapping and disease gene isolation.

Purpose of the Study:

  • To identify and characterize a novel polymorphic DNA repeat sequence on chromosome 11p15.3.
  • To evaluate its potential as a genetic marker for linkage analysis and identity testing.

Main Methods:

  • Random DNA sequencing of chromosome 11 cosmid clones to identify repetitive elements.
  • Fluorescence in situ hybridization (FISH) for precise locus mapping.
  • Polymerase chain reaction (PCR) amplification using flanking primers to assess polymorphism.
  • Analysis of amplification products in unrelated individuals and families to determine allele frequency and inheritance patterns.

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Main Results:

  • A tetrameric repeat sequence, (GATA)n, was identified and mapped to chromosome 11p15.3.
  • The (GATA)n locus is highly polymorphic, with at least five alleles detected (227-249 base pairs).
  • The polymorphism follows typical Mendelian inheritance patterns.
  • The marker is PCR-detectable and suitable for genetic analysis.

Conclusions:

  • The (GATA)n repeat sequence represents a valuable PCR-detectable genetic marker for chromosome 11p15.3.
  • This marker can aid in the isolation of disease genes located in this region.
  • The polymorphism is suitable for identity testing and population genetics studies.