β-Globin gene mutations in pediatric patients with β-Thalassemia in the region of Çukurova, Turkey
Yazarlar (3)
Dr. Öğr. Üyesi Figen GÜZELGÜL
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Niğde Ömer Halisdemir University, Türkiye
Çukurova Üniversitesi Tip Fakültesi, Türkiye
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale |
| Dergi Adı | Hemoglobin |
| Dergi ISSN | 0363-0269 Wos Dergi Scopus Dergi |
| Dergi Tarandığı Indeksler | SCI-Expanded |
| Dergi Grubu | Q4 |
| Makale Dili | İngilizce |
| Basım Tarihi | 07-2020 |
| Cilt No | 44 |
| Sayı | 1 |
| Sayfalar | 249 / 253 |
| DOI Numarası | 10.1080/03630269.2020.1792489 |
| Makale Linki | https://doi.org/10.1080/03630269.2020.1792489 |
| Özet |
| β-Thalassemia (β-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of β-thal at the molecular level in pediatric β-thal patients in the Çukurova region. The β-thal mutations of 52 cases were analyzed. An automated blood cell counter was used for hematological data. Cellulose acetate electrophoresis and high performance liquid chromatography (HPLC) methods were used for hemoglobin (Hb) typing. Amplification refractory mutation system (ARMS), restriction fragment length polymorphism (RFLP), gap-polymerase chain reaction (gap-PCR) and DNA sequencing analysis methods were used to determine genomic features. In this study, we found that 36 subjects carried homozygous mutations [IVS-I-110 (G>A) (: c.93-21G>A) (58.3%), codon 8 (-AA) : c.25_26delAA) (5.6%), -30 (T>A) (: c.-80T>A) (5.6%), IVS-I-6 (T>C) (: c.92+6T>C) (5.6%) and IVS-II-1 (G>A) (: c.315+1G>A) (5.6%)]. We found that 13 subjects carried compound heterozygosities for IVS-I-110/IVS-I-6 (15.4%) and IVS-I-110/frameshift codon (FSC) 44 (-C) (: c.135delC) (15.4%). We observed that the Syrian subject also carried a compound heterozygosity for IVS-I-6/IVS-I-25 (-25 bp) (: c.93_21del). We determined that the most frequently observed β-thal mutation in the Çukurova region, where various types of hemoglobinopathies have been observed, is the IVS-I-110 mutation. As the prevalence of the disease will affect the region where the immigrant population is dense, population screening and prenatal diagnosis (PND) should be increased and the public should be made aware of the consequences. |
| Anahtar Kelimeler |
| beta-Thalassemia (beta-thal) | DNA sequencing | mutation analysis | prenatal diagnosis (PND) |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| WoS | 3 |
| SCOPUS | 4 |
| Google Scholar | 10 |