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Related Experiment Videos

Potential gene sequence isolation and regional mapping in human chromosome 21.

C Brahe1, F Tassone, A Millington-Ward

  • 1Institute of Human Genetics, A. Gemelli School of Medicine, Rome, Italy.

American Journal of Medical Genetics. Supplement
|January 1, 1990
PubMed
Summary

Researchers identified DNA fragments on human chromosome 21 containing CpG islands. These fragments, rich in specific restriction enzyme sites, are promising candidates for carrying gene sequences.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Genomics

Background:

  • Gene transcription initiation sites are often linked to CpG islands, which are DNA regions rich in CpG dinucleotides.
  • CpG islands contain numerous sites sensitive to methylation and cleavage by rare-cutting restriction enzymes.

Purpose of the Study:

  • To identify gene sequences on human chromosome 21.
  • To screen for DNA fragments containing CpG islands and rare restriction enzyme sites.

Main Methods:

  • Screening of a chromosome 21-specific cosmid library for DNA fragments with rare restriction sites.
  • Isolation and partial characterization of five DNA fragments.
  • Assignment of DNA fragments to specific chromosome 21 regions using somatic cell hybrids.
  • Restriction mapping to identify clusters of rare cutter sites.

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Main Results:

  • Several DNA fragments containing rare cutter sites, including Sac II sites, were isolated with an average insert size of 38.4 kb.
  • One fragment was mapped to 21q21, three to 21q22.1, and one to 21q22.2-22.3.
  • Restriction mapping indicated CpG island-like structures in at least three cloned fragments.

Conclusions:

  • The identified DNA fragments with rare cutter site clusters are strong candidates for containing coding sequences.
  • This study provides valuable DNA resources for further gene identification on human chromosome 21.