Beta globin mutations in Turkish, northern Iraqi and albanian patients with beta thalassemia major
Yükleniyor...
Dosyalar
Tarih
2018
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Pagepress Publ
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
The mutation detection of beta thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The b globin gene has 3 exons and 2 introns, involved in beta-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of b globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric beta thalassemia major patients. After genomic DNA extraction from venous blood and amplification of the target DNA regions with PCR, genotyping was achieved by Sanger based DNA sequencing. The IVSI-110 G>A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G>A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A>G 3' UTR (rs63751128) and c.113 G>A (p.Trp38Ter, p.W38*) (rs35887507)] with this study. These findings may be of value for genetic counseling, premarital diagnosis, prenatal diagnosis and prevention programs.
Açıklama
Anahtar Kelimeler
Beta Globin Mutations, Thalassemia Major, Turkey, Northern Iraq, Albania
Kaynak
Thalassemia Reports
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
8
Sayı
2
Künye
Hancer, V. S., Fisgin, T., Buyukdogan, M., Bozkurt, C., & Lako, S. (2018). beta globin mutations in Turkish, Northern Iraqi and Albanian patients with beta thalassemia major. THALASSEMIA REPORTS, 8(2), 97–100. https://doi.org/10.4081/thal.2018.7286
