Document Detail


Linkage and apparent heterogeneity in proximal spinal muscular atrophies.
MedLine Citation:
PMID:  8268730     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Linkage studies with 9 highly informative DNA markers on the long arm of chromosome 5 were performed in 12 multiplex families (29 patients) with spinal muscular atrophy (SMA) from The Netherlands. The results of the linkage analysis were compatible with localization of a major SMA gene in the chromosomal region 5q12-13. By minimum recombinant analysis the most likely position of the SMA locus was between loci D5S6/D5S125 and D5S112/MAP1B, which is in agreement with several linkage studies from other countries. In four families, however, more than one crossover between SMA and a flanking DNA marker appeared, and in one family the observed hybridization phenotype for the markers closely flanking the SMA locus was identical for an unaffected individual and for his two affected sibs with SMA type III. For this latter family, among several explanations the most likely are either the presence of a double crossover or linkage heterogeneity.
Authors:
J M Cobben; H Scheffer; M De Visser; J Osinga; R Frants; G van der Steege; C Wijmenga; L P ten Kate; G J van Ommen; C H Buys
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  3     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  1993 Jul 
Date Detail:
Created Date:  1994-02-01     Completed Date:  1994-02-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  327-33     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, University of Groningen, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 5*
DNA / blood,  isolation & purification
Female
Genetic Markers
Humans
Linkage (Genetics)*
Lod Score
Male
Muscular Atrophy, Spinal / genetics*
Pedigree
Chemical
Reg. No./Substance:
0/Genetic Markers; 9007-49-2/DNA

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


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