Document Detail

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.
MedLine Citation:
PMID:  7977383     Owner:  NLM     Status:  MEDLINE    
The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has been mapped to an 850-kb interval on 5q11.2-q13.3, between the centromeric D5S823 and telomeric D5S557 markers. We report a new complex marker, Ag1-CA, that lies in this interval, whose primers produce one, two, or rarely three amplification-fragment-length variants (AFLVs) per allele. Class I chromosomes are those which amplify a single AFLV allele, and class II chromosomes are those which amplify an allele with two or three AFLVs. Ag1-CA shows highly significant allelic association with type I SMA in both the French Canadian (Hôpital Sainte-Justine [HSJ]) and American (Ohio State University [OSU]) populations (P < .0001). Significant association between the Ag1-CA genotype and disease severity was also observed. Type I patients were predominantly homozygous for class I chromosomes (P = .0003 OSU; P = .0012 HSJ), whereas the majority of type II patients were heterozygous for class I and II chromosomes (P = .0014 OSU; P = .001 HSJ). There was no significant difference in Ag1-CA genotype frequencies between type III patients (P = .5 OSU; P = .25 HSJ) and the paired normal chromosomes from both carrier parents. Our results indicate that Ag1-CA is the most closely linked marker to SMA and defines the critical candidate-gene region. Finally, we have proposed a model that should be taken into consideration when screening candidate SMA genes.
C J DiDonato; K Morgan; J D Carpten; P Fuerst; S E Ingraham; G Prescott; J D McPherson; B Wirth; K Zerres; O Hurko
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  55     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1994 Dec 
Date Detail:
Created Date:  1994-12-27     Completed Date:  1994-12-27     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:  1218-29     Citation Subset:  IM    
Department of Molecular Genetics, Ohio State University, Columbus 43210.
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MeSH Terms
Base Sequence
Canada / epidemiology
Chromosome Aberrations / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 5 / genetics
France / ethnology
Genetic Markers / genetics
Hybrid Cells
Linkage (Genetics)
Molecular Sequence Data
Muscular Atrophy, Spinal / classification,  ethnology,  genetics*,  pathology*
Polymerase Chain Reaction
Sequence Tagged Sites
Grant Support
Reg. No./Substance:
0/Genetic Markers

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