Article
A Closed-Tube Nested Quantitative PCR Assay for Rapid Detection of Intron 22 Inversions in the Factor VIII Gene.
Clinical chemistry - 1 Feb 2020
Jin Shengnan, Shang Qingjuan, Jin Weijiang, Yang Liuqing, Ye Qian, Wang Xi, Zhang Tianran, Hou Mingliang, Liu Yangyang, Han Jiamin, Ding Rongxiu, Luan Ju, Wang Xuefeng, Jiang Minghua, Ding Chunming
Abstract excerpt
BACKGROUND: An inversion of intron 22 in the Factor VIII gene (Inv22) is the causative mutation for 45% of severe hemophilia A cases. Available methods for molecular diagnosis of Inv22 are generally tedious and not ideal for routine clinical use. METHODS: We report here a new method using a single closed-tube nested quantitative PCR (CN-qPCR) for rapid detection of Inv22. This method combines a 12-cycle...
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