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. 1994 Nov;55(5):946–950.

Refined Mapping of a Gene Responsible for Fukuyama-Type Congenital Muscular Dystrophy: Evidence for Strong Linkage Disequilibrium

Tatsushi Toda, Shiro Ikegawa, Keiko Okui, Eri Kondo, Kayoko Saito, Yukio Fukuyama, Mieko Yoshioka, Toshiyuki Kumagai, Kaoru Suzumori, Ichiro Kanazawa, Yusuke Nakamura
PMCID: PMC1918318  PMID: 7977357

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 ∼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 (χ2 =50.7; P<.0001). Hence, we suspect that the FCMD gene could lie within a few hundred kilobases of the mfd220 locus.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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