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Dergiler / Turkish Journal of Medical Sciences / 2017 / Cilt: 47 - Sayı: 3

Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey

Emriye Ferda PERÇİN
Mehmet Ali ERGÜN
Hatice ILGIN RUHİ
Halil KARA
Jale ÖZTÜRK
Derya KAN KARAER
Deniz REİSOĞLU ÇAKMAK
Talihanur AYDOĞMUŞ
Sayfa
973–978
Yayın Tarihi
2022-11-05
DOI
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Conclusion: This reliable kit provided rapid diagnosis including 76% of the β-thalassemia mutations in Turkey.

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Amaç & Hipotez:Background/aim: IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population.
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Temel Bulgular & Veri:Materials and methods: This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, and 21 controls with known mutations.
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Sonuç & Katkı:Conclusion: This reliable kit provided rapid diagnosis including 76% of the β-thalassemia mutations in Turkey.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Background/aim: IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these mutations using the TaqMan probe method. Materials and methods: This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, and 21 controls with known mutations. Results: We designed a kit containing the IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS mutations by using the real-time PCR method. One hundred patients were studied with our developed TaqMan real-time PCR kit. Of these patients, 73 (73%) were identified with the beta gene mutation. Among those 73 patients, 16 were homozygous, 54 were heterozygous, and 3 were compound heterozygous. Conclusion: This reliable kit provided rapid diagnosis including 76% of the β-thalassemia mutations in Turkey.

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Bu Makaleye Atıf Yap

PERÇİN, E. F., ERGÜN, M. A., RUHİ, H. I., KARA, H., ÖZTÜRK, J., KARAER, D. K., ÇAKMAK, D. R., AYDOĞMUŞ, T. (2022). Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey. Turkish Journal of Medical Sciences, Cilt: 47 - Sayı: 3, 973–978. https://ajindex.com/articles/610570

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Kaynakça (17)

  1. Wetherall DJ, Clegg JB. The Thallassemia Syndromes. 4th ed. Oxford, UK: Blackwell Scientific Publications; 2008
  2. World Health Organization. Management of Haemoglobin Disorders: Report of Joint WHO-TIF Meeting. Geneva, Switzerland: WHO; 2012
  3. Birgens H, Ljung R. The thalassemia syndromes. Scand J Clin Lab Invest 2007; 67: 11-26
  4. Aksoy M. The history of β-thalassemia in Turkey. Turk J Pediat 1991; 33: 195-197
  5. Çavdar A, Arcasoy A. The incidence of β-thalassemia and abnormal hemoglobin in Turkey. Acta Haemat 1971; 45: 312- 318
  6. Mümüşoğlu S, Sayal B, Beksaç S. Prenatal diagnosis methods of hemoglobinopathies and thalassemias. J Hem Onc-Special Topics 2010; 3: 40-43
  7. Keser İ, Manguoğlu E, Kayıslı ÖG, Kurt F, Mendilcioğlu İ, Şimşek M, Bağcı G, Küpesiz A, Lüleci G. Prenatal diagnosis of beta thalassemia in the Antalya Province. Turk J Hematol 2005; 22: 19-23
  8. Altay Ç. The frequency and distribution pattern of β-thalassemia mutations in Turkey. Turk J Hematol 2002; 19: 309-315
  9. Tadmouri GO, Tüzmen Ş, Özçelik H, Özer A, Baig SM, Senga EB, Başak AN. Molecular and population genetic analyses of β-thalassemia in Turkey. Am J Hematol 1998; 57: 215-220
  10. Keser İ. Molecular studies in hemoglobinopathies. Turkiye Klinikleri J Pediatr Sci 2007; 3: 5-10 (in Turkish with abstract in English)
  11. Ünal Ş. Clinical findings and diagnosis of beta thalassemia. Turkiye Klinikleri J Hem Onc-Special Topics 2010; 3: 14-17 (in Turkish with abstract in English)
  12. Shaji RV, Edison ES, Poonkuzhali B, Srivastava A, Chandy M. Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis. Clin Chem 2003; 49: 777-778
  13. Najmabadi H, Pourfathollah AA, Neishabury M, Sahebjam F, Krugluger W, Oberkanins C. Rare and unexpected mutations among Iranian beta thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. Haematologica 2002; 87: 1113-1114
  14. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker Smith NJC, Markham AF. Analysis of any point mutations in DNA. The application refractory mutation system (ARMS). Nucleid Acid Res 1989; 17: 2503-2516
  15. Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol 1975; 94: 441-446
  16. Basak AN. Talasemi moleküler genetiği. Türk Hematoloji Derneği Temel Moleküler Hematoloji Kursu 2005: 99-106 (in Turkish)
  17. Vrettou C, Traeger-Synodinos J