Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.
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马查多-约瑟夫病/脊髓小脑共济失调 3 基因座的连锁不平衡：法国和葡萄牙-巴西家庭中共同创始人效应以及第二个祖先葡萄牙-亚速尔人突变的证据。
DOI：
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发表时间：
1995
影响因子：
9.8
通讯作者：
A. Brice
中科院分区：
文献类型：
--
作者：
G. Stevanin;G. Cancel;O. Didierjean;A. Durr;N. Abbas;E. Cassa;J. Feingold;Y. Agid;A. Brice
脊髓性小脑性共济失调3型（SCA 3）是常染色体显性遗传小脑性共济失调I型（ADCA I型）的一种遗传亚型，ADCA I型是一组临床和遗传异质性神经系统疾病。SCA 3在法国家族中被定位于染色体14q24.3-qter，与马查多-约瑟夫病（MJD）的基因位于同一区域，根据个体患者临床表现的相似性，MJD被归类为ADCA I型的一种形式。MJD基因是最近在日本的kinetics中发现的，突变的特征是一个不稳定的CAG重复序列，在受影响的个体中扩展。在葡萄牙-亚速尔群岛血统的家族以及法国SCA 3家族中观察到相同的突变。在脆性X综合征（FRA-X）、强直性肌营养不良（MD）、亨廷顿病（HD）和SCA 1等由不稳定和扩增的三联体重复序列引起的疾病中，检测到突变与紧密连锁的多态性标记之间的连锁不平衡（LD），表明只有一个或几个创始者或易感单倍型。在本研究中，29个家庭的不同地理来源的LD之间的MJD/SCA 3突变和4个侧翼微卫星标记进行了测试。参考文献27篇，2个标签。
Spinal cerebellar ataxia 3 (SCA3) is a genetic subtype of the type I autosomal dominant cerebellar ataxias (ADCA type I), a clinically and genetically heterogeneous group of neurological disorders. SCA3 was mapped in French families to chromosome 14q24.3-qter in the same region as the gene for Machado-Joseph disease (MJD), which was classified as a form of ADCA type I on the basis of similarities in the clinical presentation of individual patients. The MJD gene was recently identified in Japanese kindreds, and the mutation was characterized as an unstable CAG repeat that is expanded in affected individuals. The same mutation is observed in families of Portuguese-Azorean ancestry, as well as in French SCA3 kindreds. In other disorders caused by unstable and expanded triplet repeats, such as fragile X syndrome (FRA-X), myotonic dystrophy (MD), Huntington disease (HD), and SCA1, linkage disequilibrium (LD) between the mutation and closely linked polymorphic markers was detected, suggesting that there were only one or a few founders or predisposing haplotypes. In the present study, 29 families of different geographical origins were tested for LD between the MJD/SCA3 mutation and four flanking microsatellite markers. 27 refs., 2 tabs.
影响因子：
3.5
作者：
A. Novelletto;F. Persichetti;G. Sabbadini;P. Mandich;E. Bellone;F. Ajmar;M. Pergola;L. del Senno;M. Macdonald;J. Gusella
通讯作者：
A. Novelletto;F. Persichetti;G. Sabbadini;P. Mandich;E. Bellone;F. Ajmar;M. Pergola;L. del Senno;M. Macdonald;J. Gusella