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    
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.
T Toda; S Ikegawa; K Okui; E Kondo; K Saito; Y Fukuyama; M Yoshioka; T Kumagai; K Suzumori; I Kanazawa
Related Documents :
3334897 - Gene deletion in a patient with chronic granulomatous disease and mcleod syndrome: fine...
7277007 - Chiari i "malformations"--an acquired disorder?
3806637 - The screening of duchenne muscular dystrophy patients for submicroscopic deletions.
8100217 - Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its ...
23530217 - De novo centromere formation on a chromosome fragment in maize.
9988017 - Determinants of precordial qt dispersion in normal subjects.
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    
Department of Biochemistry, University of Tokyo, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosome Mapping*
DNA / analysis
Linkage Disequilibrium / genetics*
Lod Score
Muscular Dystrophies / congenital,  genetics*
Recombination, Genetic / genetics
Reg. No./Substance:

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

Previous Document:  High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
Next Document:  Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex fami...