Expanded repeat sequences and disease

被引：24

作者：

Lindblad, K ^{[1
]}

Schalling, M ^{[1
]}

机构：

[1] Karolinska Hosp & Inst, Neurogenet Unit, Dept Mol Med, Stockholm, Sweden

来源：

SEMINARS IN NEUROLOGY | 1999年 / 19卷 / 03期

关键词：

anticipation; expanded repeat sequences; trinucleotide;

D O I：

10.1055/s-2008-1040845

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The clinical phenomenon of an earlier age of onset or a more severe phenotype in later generations of a family has been termed anticipation. In a number of neurological and neuropsychiatric disorders, the anticipation has been linked to expanded repeat sequences that increase in size upon transmission. This novel mutational mechanism has been demonstrated in more than 15 disorders today. The repeat sequence motif (base composition), size, and localization of expanded repeats within the respective disease genes vary between disorders and influence the way the repeat causes disease. Here, we review the occurence and properties of repeats in the genome. The different groups of disorders and possible pathogenic mechanisms are summarized. In addition, methods used for detection and identification of expanded repeats and the related disorders are discussed.

引用

页码：289 / 299

页数：11

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