Document Detail


Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.
MedLine Citation:
PMID:  8275093     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. Twenty-one FCMD families, 13 of them with consanguineous marriages, were analysed by genetic linkage analyses with polymorphic microsatellite markers to map the FCMD gene. Significant lod scores were obtained with the markers D9S58 (Zmax = 5.81 at theta = 0.06), D9S59 (Zmax = 4.33 at theta = 0.02), and HXB (Zmax = 3.28 at theta = 0.09) on chromosome 9q31-33. Multipoint analysis placed FCMD between D9S58 and D9S59, with a maximum lod score of 16.93. These markers will be useful for presymptomatic, prenatal and carrier diagnosis of family members carrying FCMD, and they represent important resources for the identification of a gene responsible for FCMD.
Authors:
T Toda; M Segawa; Y Nomura; I Nonaka; K Masuda; T Ishihara; M Sakai; I Tomita; Y Origuchi; M ] Suzuki M [corrected to Sakai
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Nature genetics     Volume:  5     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1994-02-04     Completed Date:  1994-02-04     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  283-6     Citation Subset:  IM    
Affiliation:
Dept. Biochemistry, Cancer Institute, Tokyo, Japan.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 9*
DNA, Satellite
Female
Humans
Japan
Linkage (Genetics)
Male
Muscular Dystrophies / congenital,  genetics*
Pedigree
Polymorphism, Genetic
Chemical
Reg. No./Substance:
0/DNA, Satellite
Comments/Corrections
Erratum In:
Nat Genet 1994 May;7(1):113

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