Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.
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DOI：
10.1093/hmg/3.1.93
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发表时间：
1994
影响因子：
3.5
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
中科院分区：
文献类型：
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作者：
A. Novelletto;F. Persichetti;G. Sabbadini;P. Mandich;E. Bellone;F. Ajmar;M. Pergola;L. del Senno;M. Macdonald;J. Gusella
对150名HD受试者和45名HD高风险受试者进行了IT 15 5'端CAG三核苷酸重复的分型。在所有这些，我们发现扩大段显示显着的不稳定性传输。其长度分布与先前报道的一致，并与发病年龄呈负相关（-0.686）。来自一个大型HD家系的两个处于风险中的同胞显示出与正态分布重叠的扩展区段，并且可以代表从HD到正常范围的降低。还报道了一例正常染色体的不稳定性。最后，CAG重复作为D4 S127和D4 S95位点的三个多态性DNA标记的函数的分析显示，根据每个标记的共分离等位基因或相应的单倍型分组的HD染色体上的平均重复长度没有显着差异。尽管显着的异质性在HD家庭之间的重复长度，单倍型是不相关的不同值周围的重复长度波动。
150 subjects affected with HD and 45 at high risk for the disease were typed for the CAG trinucleotide repeat at the 5' end of IT15. In all of them we find expanded segments showing marked instability upon transmission. Their length distribution matches those previously reported and inversely correlates (-0.686) with age at onset. Two at risk sibs from a large HD pedigree show expanded segments that overlap the normal distribution and can represent reductions from the HD to the normal range. A case of instability on a normal chromosome is also reported. Finally, an analysis of the CAG repeat as a function of three polymorphic DNA markers at D4S127 and D4S95 loci shows no significant difference in the average repeat length on HD chromosomes grouped according to the cosegregating allele of each marker or to the corresponding haplotype. Despite the marked heterogeneity in repeat length among HD families, haplotypes are not associated with different values around which the repeat length fluctuates.