THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1
THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1
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DOI：
10.1038/ng0595-84
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发表时间：
1995-05-01
期刊：
影响因子：
30.8
通讯作者：
BRICE, A
中科院分区：
文献类型：
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作者：
BENOMAR, A;KROLS, L;BRICE, A
常染色体显性小脑共济失调伴色素黄斑营养不良（ADCA II型）是一种罕见的神经退行性疾病。我们在全基因组搜索中通过连锁分析将ADCA II型位点定位在3号染色体上，并没有发现不同地理起源的四个家庭之间存在遗传异质性的证据。单倍型重建最初将该基因座限制在33 cM区间内，位于3p12-p21.1的D3S1300和D3S1276的两侧。结合多点分析，使用Z（max-1）方法，进一步将候选区间缩小到D3S1285附近的8 cM区域。我们的研究结果表明，ADCA II型是一种遗传同质性疾病，独立于I型小脑共济失调的异质组。
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (ADCA type II) is a rare neurodegenerative disorder with marked anticipation. We have mapped the ADCA type II locus to chromosome 3 by linkage analysis in a genome-wide search and found no evidence for genetic heterogeneity among four families of different geographic origins. Haplotype reconstruction initially restricted the locus to the 33 cM interval flanked by D3S1300 and D3S1276 located at 3p12-p21.1. Combined multipoint analysis, using the Z(max-1) method, further reduced the candidate interval to an 8 cM region around D3S1285. Our results show that ADCA type II is a genetically homogenous disorder, independent of the heterogeneous group of type I cerebellar ataxias.