Contig and FISH analysis of the SMA region

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134153

Vitale, E; Wang, C H; Grunn, A ^[1]

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1. 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--
• 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

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
COMPUTER CODES
CONTIGS
DESIGN
DISEASES
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
EXONS
FLUORESCENCE
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 5
INSTABILITY
MUSCLES
PROBES
YEASTS