Gap-PCR Screening for Common Large Deletional Mutations of β-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (δβ)0 Mutation in Antalya.

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Bilgen T., Altıok Clark Ö., Öztürk Z., Yeşilipek M. A., Keser İ.

Turkish journal of haematology : official journal of Turkish Society of Haematology, cilt.33, ss.107-11, 2016 (SCI-Expanded, Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33
  • Basım Tarihi: 2016
  • Doi Numarası: 10.4274/tjh.2014.0242
  • Dergi Adı: Turkish journal of haematology : official journal of Turkish Society of Haematology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.107-11
  • Anahtar Kelimeler: Deletional mutations, Turkish inversion/deletion (delta beta)(0) mutation, Gap-PCR, beta-Globin gene cluster, DEPENDENT PROBE AMPLIFICATION, MOLECULAR CHARACTERIZATION, PRENATAL-DIAGNOSIS, FETAL-HEMOGLOBIN, THALASSEMIA, IDENTIFICATION, POPULATION, FAMILY, TURKEY
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Objective: Although the calculated carrier frequency for point mutations of the beta-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the beta-globin gene. In this study, we aimed to screen common deletional mutations in the beta-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype.