Document Detail


Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene.
MedLine Citation:
PMID:  8096827     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The genetic map in the region of human chromosome 5 that harbors the gene for autosomal recessive forms of spinal muscular atrophy (SMA) has been refined by a multilocus linkage study in 50 SMA-segregating families. Among six markers spanning 8 cM for combined sexes, four were shown to be tightly linked to the SMA locus. Multipoint linkage analysis was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for the SMA locus is between blocks AFM114ye7 (D5S465)/EF5.15 (D5S125) and MAP-1B/JK53 (D5S112) at a sex-combined genetic distance of 2.4 and 1.7 cM, respectively. Thus the SMA gene lies in the 4-cM region between these two blocks. This information is of primary importance for designing strategies for isolating the SMA gene.
Authors:
J Melki; P Burlet; O Clermont; F Pascal; B Paul; S Abdelhak; R Sherrington; H Gurling; Y Nakamura; J Weissenbach
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  15     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1993 Mar 
Date Detail:
Created Date:  1993-05-11     Completed Date:  1993-05-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  521-4     Citation Subset:  IM    
Affiliation:
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-12, Hôpital des Enfants-Malades, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 5*
DNA, Single-Stranded
Humans
Linkage (Genetics)*
Molecular Sequence Data
Muscular Atrophy, Spinal / genetics*
Polymorphism, Restriction Fragment Length
Chemical
Reg. No./Substance:
0/DNA, Single-Stranded

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


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