Turkish Journal of Medical Sciences
Abstract
Several methods can be used to detect gene mutations associated with \beta-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 \beta-thalassemia and other diseases that target numerous mutations.
DOI
10.3906/sag-1209-60
Keywords
\beta-Thalassemia, single-tube, CD17, IVS-II nt-654
First Page
764
Last Page
767
Recommended Citation
LIU, Q, WANG, J, YANG, G, DONG, X, WANG, Z, GE, G, & GU, X (2013). One single-tube PCR assay to detect both CD17 (A>T) and IVS-II nt-654 (C>T) homozygous mutations of \beta-thalassemia. Turkish Journal of Medical Sciences 43 (5): 764-767. https://doi.org/10.3906/sag-1209-60