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Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries |
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| Authors: | Chandler D Angelicheva D Heather L Gooding R Gresham D Yanakiev P de Jonge R Baas F Dye D Karagyozov L Savov A Blechschmidt K Keats B Thomas P K King R H Starr A Nikolova A Colomer J Ishpekova B Tournev I Urtizberea J A Merlini L Butinar D Chabrol B Voit T Baethmann M Nedkova V Corches A Kalaydjieva L |
| Institution: | a Centre for Human Genetics, Edith Cowan University, Perth, Australia b Institute of Molecular and Cell Biology, Bulgarian Academy of Sciences, Sofia, Bulgaria c Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands d Medical University, Sofia, Bulgaria e Genome Sequencing Centre, Jena, Germany f Louisiana State University Medical Centre, New Orleans, LA, USA g Royal Free and University College Medical School, London, UK h University of California, Irvine, CA, USA i Hospital de Sant Joan de Deu, Barcelona, Spain j Institut de Myologie, Hopital La Salpetriere, Paris, France k Rizzoli's Institute of Orthopaedics, Bologna, Italy l Institute of Clinical Neurophysiology, Ljubljana, Slovenia m CHU La Timone, Marseille, France n Medical Faculty, University of Essen, Essen, Germany o Medical University, Pleven, Bulgaria p Childrens’ Neuropsychiatry Clinic, Timisoara, Romania q Western Australian Institute for Medical Research, Perth, Australia |
| 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. |
| Keywords: | Hereditary motor and sensory neuropathy type Lom Genetic mapping Gypsy families |
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