Document Detail

High resolution physical map of the region surrounding the spinal muscular atrophy gene.
MedLine Citation:
PMID:  8401498     Owner:  NLM     Status:  MEDLINE    
Spinal muscular atrophy (SMA) is the second most common lethal, autosomal recessive disease in Caucasians, second only to cystic fibrosis. In an effort to identify the causative gene in SMA, we have used radiation hybrid (RH) mapping to prepare a high resolution physical map of the proximal region of chromosome 5 (5q11-13) which contains the SMA gene. The map of the SMA region, which spans approximately 4 Mb, contains 19 loci including 9 polymorphic DNA markers, 8 monomorphic sequence tagged sites (STS) and two genes. Based upon the RH map the two polymorphic loci which most closely flank the SMA locus were estimated to be separated by approximately 750 kb. Using two different directional cloning schemes, several new clones between the genetic markers which most closely flank SMA were isolated. These new clones within the SMA candidate region, together with cosmid clones prepared from one RH hybrid which retains an approximately 1 Mb segment spanning the SMA region as its only human DNA, will greatly facilitate efforts to identify the gene for SMA. In addition, analysis of cloned DNA segments from within the SMA candidate region has identified the presence of a novel, chromosome 5-specific, low copy repeated sequence which is distributed throughout the region containing the SMA gene as well as in at least four other regions of chromosome 5. Whether or not these novel repeated sequences throughout the SMA region are involved in the disease remains to be determined.
T G Thompson; K E Morrison; P Kleyn; U Bengtsson; T C Gilliam; K E Davies; J J Wasmuth; J D McPherson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  2     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1993 Aug 
Date Detail:
Created Date:  1993-11-05     Completed Date:  1993-11-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1169-76     Citation Subset:  IM    
Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717.
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MeSH Terms
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 5*
DNA Primers
European Continental Ancestry Group / genetics
Genes, Lethal
Genes, Recessive
Hybrid Cells / radiation effects
In Situ Hybridization, Fluorescence
Molecular Sequence Data
Muscular Atrophy, Spinal / genetics*
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid*
Reg. No./Substance:
0/DNA Primers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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