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.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Aim: Several methods can be used to detect gene mutations associated with β-thalassemia, but it is difficult to achieve reliable and reproducible results.
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Temel Bulgular & Veri: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.
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Sonuç & Katkı: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.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Abstract
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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Bu Makaleye Atıf Yap
LIU, Q., WANG, J., YANG, G., DONG, X., WANG, Z., GE, G., GU, X. (2022). One single-tube PCR assay to detect both CD17 (A>T) and IVS-II nt-654 (C>T) homozygous mutations of β-thalassemia. Turkish Journal of Medical Sciences, Cilt: 43 - Sayı: 5, 764–767. https://ajindex.com/articles/611114
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