title: Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).
abstract: Autosomal recessive distal myopathy or Nonaka distal myopathy (NM) is characterized by its unique distribution of muscular weakness and wasting. The patients present with spared quadriceps muscles even in a late stage of the disease. The hamstring and tibialis anterior muscles are affected severely in early adulthood. We have localized the NM gene to the region between markers D9S319 and D9S276 on chromosome 9 by linkage analysis. To further refine the localization of the NM gene, we conducted homozygosity and linkage disequilibrium analysis for 14 patients from 11 NM families using 18 polymorphic markers. All of the patients from consanguineous NM families were found to be homozygous for six markers located within the region between markers D9S2178 and D9S1859. We also provided evidence for significant allelic associations between the NM region and five marker loci. Examination of the haplotype analysis identified a predominant ancestral haplotype comprising the associated alleles 199-160-154-109 (marker order: D9S2179-D9S2180-D9S2181-D9S1804), present in 60% of NM chromosomes and in 0% of parent chromosomes. On the basis of the data obtained in this study, the majority of NM chromosomes were derived from a single ancestral founder, and the NM gene is probably located within the 1.5-Mb region between markers D9S2178 and D9S1791.
authors.affiliation: Department of Neurology, Kanazawa University School of Medicine, Japan. tomoya@nanao.hosp.go.jp
authors.forename: T
authors.initials: T
authors.lastname: Asaka
authors.forename: K
authors.initials: K
authors.lastname: Ikeuchi
authors.forename: S
authors.initials: S
authors.lastname: Okino
authors.forename: Y
authors.initials: Y
authors.lastname: Takizawa
authors.forename: R
authors.initials: R
authors.lastname: Satake
authors.forename: E
authors.initials: E
authors.lastname: Nitta
authors.forename: K
authors.initials: K
authors.lastname: Komai
authors.forename: K
authors.initials: K
authors.lastname: Endo
authors.forename: S
authors.initials: S
authors.lastname: Higuchi
authors.forename: T
authors.initials: T
authors.lastname: Oyake
authors.forename: T
authors.initials: T
authors.lastname: Yoshimura
authors.forename: A
authors.initials: A
authors.lastname: Suenaga
authors.forename: E
authors.initials: E
authors.lastname: Uyama
authors.forename: T
authors.initials: T
authors.lastname: Saito
authors.forename: M
authors.initials: M
authors.lastname: Konagaya
authors.forename: N
authors.initials: N
authors.lastname: Sunohara
authors.forename: R
authors.initials: R
authors.lastname: Namba
authors.forename: H
authors.initials: H
authors.lastname: Takada
authors.forename: K
authors.initials: K
authors.lastname: Honke
authors.forename: M
authors.initials: M
authors.lastname: Nishina
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: M
authors.initials: M
authors.lastname: Shinagawa
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
authors.forename: A
authors.initials: A
authors.lastname: Matsushima
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: M
authors.initials: M
authors.lastname: Takamori
mesh_terms: D000328:Adult; D000483:Alleles; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003241:Consanguinity; D017931:DNA Primers; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006720:Homozygote; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D017931:DNA Primers; D005819:Genetic Markers