Document Detail


Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium.
MedLine Citation:
PMID:  7977357     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. After our initial mapping of the FCMD locus to chromosome 9q31-33, we further defined the locus within a region of approximately 5 cM between loci D9S127 and CA246, by homozygosity mapping in patients born to consanguineous marriages and by recombination analyses in other families. We also found evidence for strong linkage disequilibrium between FCMD and a polymorphic microsatellite marker, mfd220, which showed no recombination and a lod score of (Z) 17.49. A "111-bp" allele for the mfd220 locus was observed in 22 (34%) of 64 FCMD chromosomes, but it was present in only 1 of 120 normal chromosomes. This allelic association with FCMD was highly significant (chi 2 = 50.7; P < .0001). Hence, we suspect that the FCMD gene could lie within a few hundred kilobases of the mfd220 locus.
Authors:
T Toda; S Ikegawa; K Okui; E Kondo; K Saito; Y Fukuyama; M Yoshioka; T Kumagai; K Suzumori; I Kanazawa
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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:  55     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1994 Nov 
Date Detail:
Created Date:  1994-11-30     Completed Date:  1994-11-30     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:  946-50     Citation Subset:  IM    
Affiliation:
Department of Biochemistry, University of Tokyo, Japan.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping*
DNA / analysis
Female
Genotype
Humans
Linkage Disequilibrium / genetics*
Lod Score
Male
Muscular Dystrophies / congenital,  genetics*
Recombination, Genetic / genetics
Chemical
Reg. No./Substance:
9007-49-2/DNA
Comments/Corrections

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


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