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Article

One-step genotyping of α-thalassaemia by multiplex symmetric PCR melting curve.

Journal of clinical pathology - 1 Sept 2023

Qin Jiachun, He Jun, Li Yang, Liu Nansong, Tao Fangchao, Zhang Pengyi, Guo Weilin, Qin Qiongzhen, Zhou Wanjun

Abstract excerpt

AIMS: Alpha-thalassaemia is one of the most common monogenic disorders worldwide. Due to high guanine-cytosine (GC) content and high mutation diversity in α-globin gene cluster, deletional and non-deletional mutations were usually separately detected with different methods. The aim of this study was to develop a novel one-step method for α-thalassaemia genotyping. METHODS: A multiplex symmetric PCR melting curve...

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PMID: 35701141
DOI: 10.1136/jclinpath-2022-208363

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