Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin J J, Dürr A, Zaim A
INSERM U 289, Hôpital de la Salpêtière, Paris, France.
Nat Genet. 1995 May;10(1):84-8. doi: 10.1038/ng0595-84.
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 Zmax-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.
伴有色素性黄斑营养不良的常染色体显性遗传性小脑共济失调（II型常染色体显性遗传性小脑共济失调，ADCA II型）是一种罕见的具有明显遗传早现现象的神经退行性疾病。我们通过全基因组搜索中的连锁分析，将ADCA II型基因座定位于3号染色体，并发现来自不同地理区域的四个家系中不存在遗传异质性的证据。单倍型重建最初将该基因座限定在位于3p12 - p21.1的D3S1300和D3S1276两侧的33厘摩区间内。使用Zmax - 1方法进行的联合多点分析，进一步将候选区间缩小至D3S1285周围的8厘摩区域。我们的结果表明，ADCA II型是一种基因同质的疾病，独立于I型小脑共济失调的异质性组群。
