Box 15.1Transcript mapping: how to identify expressed sequences within genomic clones from a candidate region

Methods for transcript mapping are described in Section 10.4. In summary, these include:

  • database searches to identify genes and expressed sequence tags (ESTs) known to map within or near to the candidate region;
  • sequence analysis, to detect matches to unmapped ESTs in the databases;
  • sequence analysis, to detect genomic sequences having characteristics of exons (Figure 10.25);
  • cDNA library screening, using as probes genomic clones from the candidate region;
  • cDNA selection, for ultra-sensitive detection of cDNAs derived from the candidate region (Figure 10.24);
  • exon trapping, to find genomic sequences flanked by functional splice signals (Figure 10.23);
  • zoo blotting, to seek evolutionarily conserved sequences (Figure 10.21);
  • CpG island identification, to seek the regions of under-methylated DNA which often lie close to genes (Figure 10.22).

From: Chapter 15, Identifying human disease genes

Cover of Human Molecular Genetics
Human Molecular Genetics. 2nd edition.
Strachan T, Read AP.
New York: Wiley-Liss; 1999.
Copyright © 1999, Garland Science.

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