Turkish Journal of Medical Sciences
One single-tube PCR assay to detect both CD17 (A>T) and IVS-II nt-654 (C>T) homozygous mutations of \beta-thalassemia
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.
\beta-Thalassemia, single-tube, CD17, IVS-II nt-654
LIU, QI; WANG, JUN-LI; YANG, GUO-CAN; DONG, XUE-JUN; WANG, ZONG-XIN; GE, GUO-XING; and GU, XIAO-FENG
"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: Vol. 43:
5, Article 15.
Available at: https://journals.tubitak.gov.tr/medical/vol43/iss5/15