Hazan J, Fontaine B, Bruyn R P, Lamy C, van Deutekom J C, Rime C S, Dürr A, Melki J, Lyon-Caen O, Agid Y
Unité de Génétique Moléculaire Humaine, CNRS URA 1445, Institut Pasteur, Paris, France.
Hum Mol Genet. 1994 Sep;3(9):1569-73. doi: 10.1093/hmg/3.9.1569.
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.
常染色体显性遗传性家族性痉挛性截瘫(AD-FSP)是一种具有遗传异质性的神经退行性疾病,其特征为下肢痉挛。一个导致AD-FSP的基因座(FSP1)先前已被定位到14号染色体q区。我们现在报告,在7个法国家族中的5个以及1个荷兰大家系中,第二个AD-FSP基因座(FSP2)与2号染色体p21-p24区连锁。对重组事件的分析和多点连锁分析将FSP2定位在由基因座D2S400和D2S367侧翼的4厘摩区间内。