一种具有单纯小脑体征和癫痫症状的新型脊髓小脑共济失调基因的定位

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.

作者信息

Matsuura T, Achari M, Khajavi M, Bachinski L L, Zoghbi H Y, Ashizawa T

机构信息

Department of Neurology, Howard Hughes Medical Institute, Houston, TX, USA.

出版信息

Ann Neurol. 1999 Mar;45(3):407-11. doi: 10.1002/1531-8249(199903)45:3<407::aid-ana21>3.0.co;2-d.

DOI:10.1002/1531-8249(199903)45:3<407::aid-ana21>3.0.co;2-d

PMID:10072060

Abstract

We investigated a family with a new type of autosomal dominant cerebellar ataxia (ADCA) in which pure cerebellar ataxia is often accompanied with epilepsy. No CAG repeat expansions were detected at the spinocerebellar ataxia (SCA) type 1, 2, 3, 6, or 7 locus, and SCAs 4 and 5 were excluded by linkage analysis. We found linkage between the disease locus and D22S274 (Zmax = 3.86 at theta = 0.00) and two other makers in 22q13-qter. Haplotype analysis of the crossover events and the multipoint linkage mapping localized the disease locus to an 8.8-cM region between D22S1177 and D22S1160.

摘要

我们研究了一个患有新型常染色体显性遗传性小脑共济失调（ADCA）的家族，在该家族中，单纯性小脑共济失调常伴有癫痫。在1型、2型、3型、6型或7型脊髓小脑共济失调（SCA）位点未检测到CAG重复序列扩增，连锁分析排除了4型和5型SCA。我们发现疾病位点与D22S274之间存在连锁关系（在θ=0.00时Zmax = 3.86），并且在22q13 - qter区域还发现了其他两个标记物。对交叉事件进行单倍型分析以及多点连锁图谱分析将疾病位点定位到了D22S1177和D22S1160之间一个8.8厘摩的区域。