纯合子家族性痉挛性截瘫：九个比利时家系的临床与遗传学分析

Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees.

作者信息

De Jonghe P, Krols L, Michalik A, Hazan J, Smeyers G, Löfgren A, Weissenbach J, Martin J J, Van Broeckhoven C

机构信息

Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology, Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Belgium.

出版信息

Eur J Hum Genet. 1996;4(5):260-6. doi: 10.1159/000472212.

DOI:10.1159/000472212

PMID:8946171

Abstract

We ascertained 9 multigeneration Belgian families with pure dominant spastic paraplegia (SPG) for clinical and genetic studies. Linkage was examined using simple tandem repeat (STR) markers located near the 5 loci for familial SPG on chromosomes Xq28 (SPG1), Xq21.3-q22 (SPG2), 2p21-p24 (SPG4), 14q12-q23 (SPG3) and 15q11.1 (SPG6). Positive linkage results were obtained only for markers at the SPG4 locus mapping the SPG4 gene between D2S400 and D2S367, a region of 4 cM. In order to facilitate the positional cloning of the SPG4 gene, we constructed a contiguous YAC map covering the SPG4 candidate region. Our physical mapping data indicate that the SPG4 gene resides within maximal 5 Mb.

摘要

我们确定了9个患有纯显性遗传性痉挛性截瘫（SPG）的比利时多代家族用于临床和遗传学研究。使用位于Xq28（SPG1）、Xq21.3 - q22（SPG2）、2p21 - p24（SPG4）、14q12 - q23（SPG3）和15q11.1（SPG6）染色体上5个家族性SPG基因座附近的简单串联重复（STR）标记进行连锁分析。仅在SPG4基因座的标记上获得了阳性连锁结果，该标记将SPG4基因定位在D2S400和D2S367之间，跨度为4厘摩的区域。为了便于SPG4基因的定位克隆，我们构建了一个覆盖SPG4候选区域的连续酵母人工染色体（YAC）图谱。我们的物理图谱数据表明，SPG4基因最大位于5兆碱基范围内。