Avtor/Urednik		Chandler, David; Angelicheva, Dora; Heather, Lisa; Gooding, Rebecca; Gresham, David; Yanakiev, Peter; de Jonge, Roos; Baas, Frank; Dye, Danielle; Butinar, Dušan
Naslov		Hereditary motor and sensory neuropathy - Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
Tip		članek
Vir		Neuromuscul Disord
Vol. in št.		Letnik 10, št. 8
Leto izdaje		2000
Obseg		str. 584-91
Jezik		eng
Abstrakt		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.
Deskriptorji		NEUROPATHIES, HEREDITARY MOTOR AND SENSORY GENETIC MARKERS EUROPE GYPSIES RECOMBINATION, GENETIC HOMOZYGOTE MICROSATELLITE REPEATS GENOTYPE PHENOTYPE POLYMERASE CHAIN REACTION HAPLOTYPES PEDIGREE