title: Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map.
abstract: Hereditary motor and sensory neuropathy russe, a form of autosomal recessive Charcot-Marie-Tooth disease, is a rare disorder found in several Roma families from Europe. The gene has been mapped to a 1Mb region on 10q22. Detailed analysis led to the exclusion of 22 candidate genes and the assembly of a high-density genetic map comprising 141 polymorphic markers. Extensive genotyping in an extended sample of affected families resulted in a 10-fold reduction of the critical hereditary motor and sensory neuropathy russe gene region, which is now contained within a single completely sequenced BAC clone. The fact that no sequence variant has been detected in the known genes in the critical region indicates that the hereditary motor and sensory neuropathy russe mutation affects a novel gene that remains to be identified.
authors.affiliation: Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.
authors.forename: Janina
authors.initials: J
authors.lastname: Hantke
authors.forename: Tamara
authors.initials: T
authors.lastname: Rogers
authors.forename: Lisa
authors.initials: L
authors.lastname: French
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.forename: Velina
authors.initials: V
authors.lastname: Guergueltcheva
authors.forename: Jon Andoni
authors.initials: JA
authors.lastname: Urtizberea
authors.forename: Jaume
authors.initials: J
authors.lastname: Colomer
authors.forename: Axinia
authors.initials: A
authors.lastname: Corches
authors.forename: Constantin
authors.initials: C
authors.lastname: Lupu
authors.forename: Luciano
authors.initials: L
authors.lastname: Merlini
authors.forename: P K
authors.initials: PK
authors.lastname: Thomas
authors.forename: Luba
authors.initials: L
authors.lastname: Kalaydjieva
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D002879:Chromosomes, Human, Pair 10; D030541:Databases, Genetic; D005060:Europe / Q000208:ethnology; D005260:Female; D008040:Genetic Linkage; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic