Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification
Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification
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DOI：
10.1097/gim.0b013e31803d35bc
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发表时间：
2007-04-01
影响因子：
8.8
通讯作者：
Ko, Tsang-Ming
中科院分区：
文献类型：
--
作者：
Huang, Chien-Hao;Chang, Yih-Yuan;Ko, Tsang-Ming
目的：使用多重连接依赖性探针扩增来确定存活运动基因的拷贝数。方法：招募了 373 名受试者并将其分为三组。第1组包括310名没有肌萎缩病史的受试者，第2组包括18名患者和45名脊髓性肌萎缩症携带者，第3组包括20名之前接受过变性高效液相色谱检测的受试者。使用市售的多重连接依赖性探针扩增试剂盒测定存活运动神经元 1 和存活运动神经元 2 基因的拷贝数。结果：该系列中可以明确定义21个运动神经元存活基因的基因型。基因分型的整个过程
Purpose: To determine the copy number of survival motor genes using multiplex ligation-dependent probe amplification. Methods: Three hundred seventy-three subjects were recruited and divided into three groups. Group 1 included 310 subjects without a history of muscular atrophy, Group 2 consisted of 18 patients and 45 carriers of spinal muscular atrophy, and Group 3 included 20 subjects who were previously tested with denatured high-performance liquid chromatography. The copy number of survival motor neuron 1 and survival motor neuron 2 genes was determined with a commercially available multiplex ligation-dependent probe amplification kit. Results: Twenty-one genotypes of the survival motor neuron genes could be clearly defined in this series. The whole process of genotyping took