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Related Experiment Videos

Long-range restriction map around 11p13 aniridia locus.

L M Davis1, A M Everest, K O Simola

  • 1Department of Human Genetics, Roswell Park Memorial Institute, Buffalo, New York 14263.

Somatic Cell and Molecular Genetics
|November 1, 1989
PubMed
Summary
This summary is machine-generated.

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Researchers mapped the aniridia locus (AN2) on chromosome 11p13 using DNA markers and gel electrophoresis. This physical map helps define the gene

Area of Science:

  • Genetics and Molecular Biology
  • Human Disease Genetics

Background:

  • Aniridia is a human genetic disorder affecting eye development.
  • The aniridia locus (AN2) is located on chromosome 11p13.
  • Understanding the genetic and physical organization around AN2 is crucial for gene identification.

Purpose of the Study:

  • To construct a high-resolution physical map of the 11p13 region surrounding the aniridia locus (AN2).
  • To identify DNA markers flanking the chromosome translocation breakpoint in a familial aniridia patient.
  • To estimate the size of the aniridia gene.

Main Methods:

  • Assembly of a 1.5-Mb physical map using two random DNA markers.
  • Pulsed field gel electrophoresis (PFGE) for DNA fragment analysis.
  • Restriction digests (single- and double-) on DNA from normal and aniridia patient samples.

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Main Results:

  • A 1.5-megabase (Mb) physical map of the 11p13 aniridia locus was successfully assembled.
  • Two DNA markers were identified to flank the chromosome translocation breakpoint in the aniridia patient.
  • The 11p13 breakpoint was localized within 100 kb of DNA marker 1104 (D11S95).
  • Two CpG islands flanking the translocation suggest an upper limit for the aniridia gene size.

Conclusions:

  • The physical map provides a framework for further gene isolation efforts.
  • The identified DNA markers are valuable for genetic analysis and diagnosis of familial aniridia.
  • The data constrain the potential size of the aniridia gene, aiding in its characterization.