Construction of a YAC contig and STS map spanning at least 10 cM in 1q41, the critical region of Usher II gene
- Univ. of Nebraska, Omaha, NE (United States); and others
Usher syndrome is an autosomal recessive disorder causing congenital hearing loss, progressive retinitis pigmentosa and vestibular dysfunction. The Usher syndrome is both clinically and genetically heterogeneous. At least three genetic types of Usher syndrome are know to exist. The Usher II (USH2) syndrome has originally been linked to 1q41 between D1S70 and D1S81. more recently its location was refined and placed between D1S217 and D1S229. We have constructed a YAC contig containing 23 clones and a minimum of 10 Mbp of human DNA. A total of three NotI linking clones, fourteen polymorphic microsatelite markers, eight YAC end clones and twenty lambda and cosmid subclones have been used to order the YACs and assess their integrity. The YAC subclones were used to reassess the location of the USH2 gene. Seven CpG islands have already been identified in the region. Several potential exons have been identified by exon amplification in the cosmid subclones. This map of overlapping clones, the set of densely spaced physical markers and potential exons will promote our understanding of the 1q1 region, its associated genes and eventually the gene mutated in Usher syndrome type II.
- OSTI ID:
- 134490
- 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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