遗传性运动和感觉神经病变——洛姆型（HMSNL）：来自几个欧洲国家罗姆（吉普赛）家族的精细基因定位

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

作者信息

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

机构信息

Centre for Human Genetics, Edith Cowan University, Perth, WA, Australia.

出版信息

Neuromuscul Disord. 2000 Dec;10(8):584-91. doi: 10.1016/s0960-8966(00)00148-6.

DOI:10.1016/s0960-8966(00)00148-6

PMID:11053686

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.

摘要

洛姆型遗传性运动和感觉神经病最初在来自保加利亚的罗姆（吉普赛）家族中被发现，已被定位到8q24。已对来自欧洲各地确诊患者的DNA进行了该区域的进一步精细定位。精细图谱由大约3厘摩（cM）范围内的25个微卫星标记组成。在这项合作研究中，我们发现了一些历史重组事件，这些重组是由于洛姆型遗传性运动和感觉神经病基因随着吉普赛群体的迁移和隔离在欧洲传播而产生的。重组定位和纯合性最小区域将最初3厘摩的洛姆型遗传性运动和感觉神经病区域缩小到了约200千碱基对（kb）的关键区间。