title: Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.
abstract: Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping of the region has been undertaken on DNA from patients diagnosed across Europe. The refined map consists of 25 microsatellite markers over approximately 3 cM. In this collaborative study we have identified a number of historical recombinations resulting from the spread of the hereditary motor and sensory neuropathy type Lom gene through Europe with the migration and isolation of Gypsy groups. Recombination mapping and the minimal region of homozygosity reduced the original 3 cM hereditary motor and sensory neuropathy type Lom region to a critical interval of about 200 kb.
authors.affiliation: Centre for Human Genetics, Edith Cowan University, Perth, WA, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Chandler
authors.forename: D
authors.initials: D
authors.lastname: Angelicheva
authors.forename: L
authors.initials: L
authors.lastname: Heather
authors.forename: R
authors.initials: R
authors.lastname: Gooding
authors.forename: D
authors.initials: D
authors.lastname: Gresham
authors.forename: P
authors.initials: P
authors.lastname: Yanakiev
authors.forename: R
authors.initials: R
authors.lastname: de Jonge
authors.forename: F
authors.initials: F
authors.lastname: Baas
authors.forename: D
authors.initials: D
authors.lastname: Dye
authors.forename: L
authors.initials: L
authors.lastname: Karagyozov
authors.forename: A
authors.initials: A
authors.lastname: Savov
authors.forename: K
authors.initials: K
authors.lastname: Blechschmidt
authors.forename: B
authors.initials: B
authors.lastname: Keats
authors.forename: P K
authors.initials: PK
authors.lastname: Thomas
authors.forename: R H
authors.initials: RH
authors.lastname: King
authors.forename: A
authors.initials: A
authors.lastname: Starr
authors.forename: A
authors.initials: A
authors.lastname: Nikolova
authors.forename: J
authors.initials: J
authors.lastname: Colomer
authors.forename: B
authors.initials: B
authors.lastname: Ishpekova
authors.forename: I
authors.initials: I
authors.lastname: Tournev
authors.forename: J A
authors.initials: JA
authors.lastname: Urtizberea
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.forename: D
authors.initials: D
authors.lastname: Butinar
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: M
authors.initials: M
authors.lastname: Baethmann
authors.forename: V
authors.initials: V
authors.lastname: Nedkova
authors.forename: A
authors.initials: A
authors.lastname: Corches
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005060:Europe; D005260:Female; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D006178:Romani People / Q000235:genetics