Hereditary motor and sensory neuropathy Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

被引：16

作者：

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, PK

King, RHM

Starr, A

Nikolova, A

Colomer, J

Ishpekova, B

Tournev, I

Urtizberea, JA

Merlini, L

Butinar, D

Chabrol, B

Voit, T

Baethmann, M

Nedkova, V

Corches, A

Kalaydjieva, L

机构：

[1] Edith Cowan Univ, Ctr Human Genet, Perth, WA 6027, Australia

[2] Bulgarian Acad Sci, Inst Mol & Cell Biol, Sofia, Bulgaria

[3] Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

[4] Med Univ Sofia, Sofia, Bulgaria

[5] Genome Sequencing Ctr, Jena, Germany

[6] Louisiana State Univ, Med Ctr, New Orleans, LA USA

[7] UCL Royal Free & Univ Coll Med Sch, London, England

[8] Univ Calif Irvine, Irvine, CA USA

[9] Hosp St Joan Deu, Barcelona, Spain

[10] Hop La Pitie Salpetriere, Inst Myol, Paris, France

[11] Rizzolis Inst Orthopaed, Bologna, Italy

[12] Inst Clin Neurophysiol, Ljubljana, Slovenia

[13] CHU La Timone, Marseille, France

[14] Univ Essen Gesamthsch, Fac Med, Essen, Germany

[15] Med Univ, Pleven, Bulgaria

[16] Childrens Neuropsychiat Clin, Timisoara, Romania

[17] Western Australia Inst Med Res, Perth, WA, Australia

来源：

NEUROMUSCULAR DISORDERS | 2000年 / 10卷 / 08期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

hereditary motor and sensory neuropathy type Lom; genetic mapping; gypsy families;

D O I：

10.1016/S0960-8966(00)00148-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 me 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. (C) 2000 Elsevier Science B.V. All rights reserved.

引用

页码：584 / 591

页数：8

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