Document Detail

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
MedLine Citation:
PMID:  7910982     Owner:  NLM     Status:  MEDLINE    
Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies are divided into severe (type I) and mild forms (types II and III). By a combination of genetic and physical mapping, a yeast artificial chromosome contig of the 5q13 region spanning the disease locus was constructed that showed the presence of low copy repeats in this region. Allele segregation was analyzed at the closest genetic loci detected by markers C212 and C272 in 201 SMA families. Inherited and de novo deletions were observed in nine unrelated SMA patients. Moreover, deletions were strongly suggested in at least 18 percent of SMA type I patients by the observation of marked heterozygosity deficiency for the loci studied. These results indicate that deletion events are statistically associated with the severe form of spinal muscular atrophy.
J Melki; S Lefebvre; L Burglen; P Burlet; O Clermont; P Millasseau; S Reboullet; B Bénichou; M Zeviani; D Le Paslier
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Science (New York, N.Y.)     Volume:  264     ISSN:  0036-8075     ISO Abbreviation:  Science     Publication Date:  1994 Jun 
Date Detail:
Created Date:  1994-06-29     Completed Date:  1994-06-29     Revised Date:  2007-03-19    
Medline Journal Info:
Nlm Unique ID:  0404511     Medline TA:  Science     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1474-7     Citation Subset:  IM    
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
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MeSH Terms
Base Sequence
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 5*
Gene Deletion*
Genetic Markers
Molecular Sequence Data
Muscular Atrophy, Spinal / genetics*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Repetitive Sequences, Nucleic Acid
Spinal Muscular Atrophies of Childhood / genetics*
Reg. No./Substance:
0/Genetic Markers

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

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