Document Detail


Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.
MedLine Citation:
PMID:  7874111     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The gene for the common recessive neuromuscular disorder spinal muscular atrophy (SMA) has been previously mapped to chromosome 5q. We report here linkage disequilibrium analyses of two polymorphic simple tandem repeat (STR) sequences which map into the critical region of 5q13 containing the SMA gene. The polymorphisms presented are constituents of CATT-1, a complex STR which is present in as many as four or more copies per chromosome 5. The PCR can amplify as many as eight CATT-1 products of different sizes from genomic DNA samples due to differing numbers of CA dinucleotides at each STR location (sublocus). Oligonucleotide primers for two of these subloci have been developed for specific PCR assays; a variety of allele sizes can be generated with each assay and, in some cases, no amplification products are detected due to null alleles. The genotyping of 149 SMA Type 1 chromosomes and 142 normal chromosomes from Canadian and American kindreds reveals the presence of significant linkage disequilibrium between the null allele of the sublocus referred to as CATT-40G1 and mutation(s) causing SMA Type 1 (Werdnig-Hoffmann disease). Allele 2 of the second sublocus, CATT-192F7, is also in linkage disequilibrium with SMA Type 1 although the degree of this association is less than that found for CATT-40G1. The proximal and distal STRs from the critical region, D5S435 and D5S351, showed no linkage disequilibrium with SMA. The data presented here will serve as a framework for future linkage disequilibrium analyses, expediting the final stage of the search for the SMA gene.
Authors:
M D McLean; N Roy; A E MacKenzie; M Salih; A H Burghes; L Simard; R G Korneluk; J E Ikeda; L Surh
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  3     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1994 Nov 
Date Detail:
Created Date:  1995-04-04     Completed Date:  1995-04-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1951-6     Citation Subset:  IM    
Affiliation:
Faculty of Medicine, University of Ottawa, Ontario, Canada.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 5*
Humans
Linkage Disequilibrium / genetics*
Molecular Sequence Data
Phenotype
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid / genetics*
Spinal Muscular Atrophies of Childhood / genetics*

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


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