Contig and FISH analysis of the SMA region
- and others
The minimum genetic region encompassing the spinal muscular atrophy locus has been limited to approximately 400 Kb. We have covered this region in overlapping YACs and subcloned the YACs into small phage clones. A concerted effort to build a cosmid contig has been complicated by the now well documented incidence of low-copy repeat DNA in the region. To characterize the low copy elements and regions of genomic instability in an effort to facilitate the SMA gene search, we have constructed cosmic and phage contigs across much of the region. Correlation of FISH mapping with STS and exon mapping to overlapping clones provides a preliminary characterization of repeat DNA in the region. The mapping of STS and exon sequences to YAC phage and cosmid clones was used to identify areas of instability across the disease gene region. FISH mapping and analysis of phage derived from the YAC contig are used to verify the 5q11.3 location of genes and probes from the region.
- OSTI ID:
- 134153
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0889
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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