Qi LIU, Jun-Li WANG, Guo-Can YANG, Xue-Jun DONG, Zong-Xin WANG, Guo-Xing GE, Xiao-Feng GU

One single-tube PCR assay to detect both CD17 (A>T) and IVS-II nt-654 (C>T) homozygous mutations of β-thalassemia

Aim: Several methods can be used to detect gene mutations associated with β-thalassemia, but it is difficult to achieve reliable and reproducible results. In this study, we introduce a new method, a single-tube multiplex polymerase chain reaction (PCR) assay, to detect both CD17 (A>T) and IVS-II nt-654 (C>T) homozygous mutations. Materials and methods: This new method designs specific primers to diagnose homozygous mutations and normal controls. Results: After PCR amplification, homozygous mutations produce different fragments from normal controls. Conclusion: This study represents an important step towards the development of a novel protocol to diagnose β-thalassemia and other diseases that target numerous mutations.

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