Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region
Journal Article
·
· American Journal of Human Genetics
OSTI ID:134459
- Univ. of Alberta (Canada); and others
Cat eye syndrome is characterized cytogenetically by the presence of a supernumerary marker chromosome derived from duplicated regions of 22pter-22q11.2. In order to study this syndrome, we have mapped and cloned within the CES critical region (CESCR) in 22q11.2. A long-range map was constructed using probes previously mapped to the CESCR by somatic cell hybrids. The map spans from probes LN63 to D22S36 and covers approximately 3 Mb. Probes within the region were used to isolate YACs, producing a contig of approximately 1.5 Mb (cLN63-D22S57). DNA studies of a cat eye patient with an unusual marker chromosome refined the minimal critical region proximal to D22S57, indicating that most of the CESCR is now cloned. The physical map will allow us to further delineate the CESCR and isolate genes in the region. Towards this end, we have performed {open_quotes}exon-trapping{close_quotes}on a cosmid, CN63, in this region. A 250 bp exon was isolated which maps to the CESCR and has no homology in GenBank. Further characterization of the gene containing this exon is in progress.
- OSTI ID:
- 134459
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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