دورية أكاديمية
Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey.
| العنوان: | Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey. |
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| المؤلفون: | Kan Karaer D; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.; Department of Medical Genetics, Dr. Ersin Arslan Research and Training Hospital, Gaziantep, Turkey., Ergün MA; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey., Ruhi HI; Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey., Öztürk J; Provincial Health Directorate, Ankara, Turkey., Kara H; Provincial Health Directorate, Ankara, Turkey., Reisoğlu Çakmak D; Provincial Health Directorate, Ankara, Turkey., Aydoğmuş T; Provincial Health Directorate, Ankara, Turkey., Perçin EF; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey. |
| المصدر: | Turkish journal of medical sciences [Turk J Med Sci] 2017 Jun 12; Vol. 47 (3), pp. 973-978. Date of Electronic Publication: 2017 Jun 12. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Scientific and Technical Research Council of Turkey Country of Publication: Turkey NLM ID: 9441758 Publication Model: Electronic Cited Medium: Print ISSN: 1300-0144 (Print) Linking ISSN: 13000144 NLM ISO Abbreviation: Turk J Med Sci Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Ankara : Scientific and Technical Research Council of Turkey, [1994- |
| مواضيع طبية MeSH: | beta-Thalassemia*/diagnosis , beta-Thalassemia*/genetics, Hemoglobin, Sickle/*genetics , Mutation/*genetics , Real-Time Polymerase Chain Reaction/*methods, DNA Mutational Analysis/methods ; Humans ; Reproducibility of Results ; Turkey |
| مستخلص: | 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. |
| فهرسة مساهمة: | Keywords: Beta-thalassemia; HbS; mutation; β-thalassemia screening kit |
| المشرفين على المادة: | 0 (Hemoglobin, Sickle) |
| تواريخ الأحداث: | Date Created: 20170617 Date Completed: 20190107 Latest Revision: 20190107 |
| رمز التحديث: | 20221213 |
| DOI: | 10.3906/sag-1606-49 |
| PMID: | 28618753 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1300-0144 |
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| DOI: | 10.3906/sag-1606-49 |