Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay
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DOI：
10.1016/s1525-1578(10)60496-5
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发表时间：
2004-05-01
影响因子：
4.1
通讯作者：
Brusco, A
中科院分区：
文献类型：
--
作者：
Cagnoli, C;Michielotto, C;Brusco, A
至少有18种人类遗传疾病是由短串联重复序列的扩展引起的。在这里，我们描述了一个成功的应用荧光PCR方法检测FRDA1，SCA10和SCA12基因的扩增重复序列。虽然这种测试不能精确估计扩张的大小，但它是稳健的，可靠的，廉价的，可用于筛选大量的患者。它被证明可用于证实在长距离PCR的不明确结果之后弗里德赖希共济失调基因中存在大的扩增，以及快速预筛选与弗里德赖希共济失调和SCA10相关的大的重复扩增和与SCA12相关的较短的重复扩增。
At least 18 human genetic diseases are caused by expansion of short tandem repeats. Here we describe a successful application of a fluorescent PCR method for the detection of expanded repeats in FRDA1, SCA10, and SCA12 genes. Although this test cannot give a precise estimate of the size of the expansion, it is robust, reliable, and inexpensive, and can be used to screen large series of patients. it proved useful for confirming the presence of large expansions in the Friedreich ataxia gene following an ambiguous result of long-range PCR, as well as rapid pre-screening for large repeat expansions associated with Friedreich ataxia and SCA10 and the shorter repeat expansions associated with SCA12.