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PMID: 7977357 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium.

American journal of human genetics ·Vol. 55 ·No. 5 ·1994-11-00 ·Pages 946-50

Toda T, Ikegawa S, Okui K, Kondo E, Saito K, Fukuyama Y, Yoshioka M, Kumagai T, Suzumori K, Kanazawa I

Abstract

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.

MeSH Terms

Chromosome Mapping DNA/analysis Female Genotype Humans Linkage Disequilibrium/genetics Lod Score Male Muscular Dystrophies/congenital,genetics Recombination, Genetic/genetics

Chemicals

DNA

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Toda T

Department of Biochemistry, University of Tokyo, Japan.

Ikegawa S

Okui K

Kondo E

Saito K

Fukuyama Y

Yoshioka M

Kumagai T

Suzumori K

Kanazawa I

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1994-11-00

Pages

946-50

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1918318

Subset

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Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium.

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