Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey
Indian Journal of Hematology and Blood Transfusion, cilt.32, sa.4, ss.454-459, 2016 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 32 Sayı: 4
- Basım Tarihi: 2016
- Doi Numarası: 10.1007/s12288-015-0617-z
- Dergi Adı: Indian Journal of Hematology and Blood Transfusion
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.454-459
- Anahtar Kelimeler: alpha-Thalassemia, Multiplex ligation dependent probe amplification, Reverse dot blot hybridization, Southern Turkey
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
α-thalassemia is the most common single gene disorder in the Cukurova Region in Turkey. It is therefore routinely screened, including premaritally, in our region. The heterogeneous molecular basis of the disease makes α-thalassemia mutation detection difficult and complex. Besides well established methods, multiplex ligation dependent probe amplification (MLPA) is known as an effective, simple and specific method for the detection and characterization of deletions and duplications. We employed MLPA testing to 30 patients with hematological parameters suggestive of α-thalassemia carrier status but was negative for α-thalassemia with conventional reverse dot blot hybridization (RDB). We found α-globin gene deletions in 3 out of 30 (10 %) patients with MLPA. We propose that MLPA can be used as a second tier test in addition to other techniques such as RDB to identify α-thalassemia carriers in high prevalence regions such as ours, thereby allowing clinicians to provide accurate genetic counselling.