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題 名 | Distribution of CAG Repeat Size in the Dentatorubral and Pallidoluysian Atrophy (DRPLA) Gene in a Normal Population in Taiwan=臺灣人齒狀紅核蒼白球萎縮症基因高度多型性之CAG重覆 |
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作 者 | 謝明麗; 邱美惠; 林怡欣; 林佳慧; 呂聰明; 李宣佑; 李娟; | 書刊名 | Proceedings of the National Science Council : Part B, Life Science |
卷 期 | 24:2 2000.04[民89.04] |
頁 次 | 頁76-80 |
分類號 | 415.83 |
關鍵詞 | 臺灣; 齒狀紅核蒼白球萎縮症; DRPLA基因; Dentatorubral and pallidoluysian atrophy; Trinucleotide disease; CAG repeat; Polymorphism; |
語 文 | 英文(English) |
英文摘要 | Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder with expansion of trinucleotide CAG repeats in the coding region of the gene. Expansion of the repeat tract beyond the normal range produces gene products with extended polyglutamine tracts. In this study, we analyzed the distribution of the CAG repeats in the DRPLA alleles in a normal Taiwanese population. We observed 15 different alleles and found that the range of the CAG repeat number was from 7-21. The most frequent allele contained 15 CAG repeats that represented 20% of the total analyzed alleles, followed by the 17 repeats (15.8%). The heterozygosity rate of this locus was 88%. Twelve parents-to-children transmissions of the DRPLA alleles in a Machado-Joseph disease family appeared to be normal without any alteration of the CAG repeat numbers. Phenotypes of DRPLA overlapped those of autosomal dominant cerebellar ataxia (ADCA). In order to identify DRPLA patients in Taiwan, we screened six autosomal dominant cerebellar ataxia patients without expansion in known spinocerebellar ataxia genes. All six patients had the repeat numbers within the normal range; thus, the possibility of DRPLA could be excluded. |
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