A simple and rapid analysis of triplet repeat diseases by expand long PCR
A simple and rapid analysis of triplet repeat diseases by expand long PCR
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DOI：
10.1515/cclm.2001.202
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发表时间：
2001-12-01
影响因子：
6.8
通讯作者：
Pavelic, K
中科院分区：
文献类型：
--
作者：
Hecimovic, S;Vlasic, J;Pavelic, K
现在已经知道，15种单基因疾病，主要是神经疾病，是由某些基因的三核苷酸重复序列中发生的相同类型的突变引起的。由于它们具有非特异性和可变性的表型，只有通过DNA分析才能做出准确的诊断。我们开发了一种扩展的长片段聚合酶链式反应方法，为此类疾病提供了更可靠的分子诊断。它的主要特点是扩增扩增能力强、操作简单、成本低、速度快。我们建议将Expand Long PCR用于三重重复疾病的常规分子诊断，并对脆性X综合征、强直性肌营养不良和亨廷顿病进行分析。
It is now known that 15 monogenic, mostly neurological, disorders are caused by the same type of mutations that occur in trinucleotide repeat sequences in certain genes. Since they share a nonspecific and variable phenotype, the accurate diagnosis could be made only by DNA analysis. We developed an Expand Long PCR assay that provides more reliable molecular diagnosis of such disorders. Its main characteristics are robust amplification of expanded alleles, simplicity, low cost and speed. We suggest the use of Expand Long PCR for routine molecular diagnosis of triplet repeat diseases, and present such analysis of the fragile X syndrome, myotonic dystrophy and Huntington's disease.