Document Detail


Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.
MedLine Citation:
PMID:  8128967     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9 (D5S637)--which are the closest markers to the SMA locus. Multilocus analysis by the location-score method was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for SMA is between locus D5S629 and the block D5S637/D5S351/MAP-1B/D5S112/D5S357. Genetic analysis of inbred SMA families, based on homozygosity by descent and physical mapping using mega-YACs, gave additional information for the loci order as follows: cen-D5S6-D5S125/D5S465-D5S435-D5S629-SMA-+ ++D5S637-D5S351-MAP-1B/D5S112-D5S357- D5S39-tel. These data give the direction for bidirectional walking in order to clone this interval and isolate the SMA gene.
Authors:
O Clermont; P Burlet; L Burglen; S Lefebvre; F Pascal; J McPherson; J J Wasmuth; D Cohen; D Le Paslier; J Weissenbach
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  54     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1994 Apr 
Date Detail:
Created Date:  1994-04-13     Completed Date:  1994-04-13     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  687-94     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:
Child
Chromosome Mapping / methods
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 5*
Female
Genetic Markers
Homozygote
Humans
Linkage (Genetics)
Male
Muscular Atrophy, Spinal / genetics*
Polymorphism, Genetic*
Chemical
Reg. No./Substance:
0/Genetic Markers
Comments/Corrections

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