Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.
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常染色体显性遗传家族性痉挛性截瘫的新基因座与 2p 染色体的连锁。
DOI：
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发表时间：
1994
影响因子：
3.5
通讯作者：
J. Welssenbach
中科院分区：
文献类型：
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作者：
J. Hazan;J. Hazan;B. Fontaine;Richard P. M. Bruyn;C. Lamy;J. Deutekom;Clalre;Alexandra Durr;Judith Melkl;Olivier Lyon;Yves Agid;Arnold Munnich;G. Padberg;Jean de Recondo;R. Frants;A. Brice;J. Welssenbach
常染色体显性遗传性家族性痉挛截瘫(AD-FSP)是一种以肢体痉挛为特征的遗传性异质性神经退行性疾病。引起AD-FSP(FSP1)的基因已被定位在染色体14Q上。我们现在报告在7个法国家系中的5个和一个荷兰大家系中，第二个AD-FSP基因座(FSP2)与染色体2p21-p24连锁。D2S400和D2S367基因座位于4 cM间隔内的重组事件和多点连锁位点FSP2的分析。
Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by a spasticity of the lower limbs. A locus causing AD-FSP (FSP1) has been previously mapped to chromosome 14q. We now report linkage of a second AD-FSP locus (FSP2) to chromosome 2p21-p24 in five of seven French families and one large Dutch pedigree. The analysis of recombination events and multipoint linkage place FSP2 within a 4 cM interval flanked by loci D2S400 and D2S367.