Author/Editor     Chandler, David; Angelicheva, Dora; Heather, Lisa; Gooding, Rebecca; Gresham, David; Yanakiev, Peter; de Jonge, Roos; Baas, Frank; Dye, Danielle; Butinar, Dušan
Title     Hereditary motor and sensory neuropathy - Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
Type     članek
Source     Neuromuscul Disord
Vol. and No.     Letnik 10, št. 8
Publication year     2000
Volume     str. 584-91
Language     eng
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 homoaygosity reduced the original 3 cM hereditary motor and sensory neuropathy type Lom region to a critical interval of about 200 kb.
Descriptors     NEUROPATHIES, HEREDITARY MOTOR AND SENSORY
GENETIC MARKERS
EUROPE
GYPSIES
RECOMBINATION, GENETIC
HOMOZYGOTE
MICROSATELLITE REPEATS
GENOTYPE
PHENOTYPE
POLYMERASE CHAIN REACTION
HAPLOTYPES
PEDIGREE