Open Accessβ Globin Mutations in Turkish, Northern Iraqi and Albanian Patients with β Thalassemia Major
Author(s) -
Veysel Sabri Hançer,
Tunç Fışgın,
Murat Büyükdoğan,
Ceyhun Bozkurt,
Sotiraq Lako
Publication year - 2018
Publication title -
thalassemia reports
Language(s) - English
Resource type - Journals
eISSN - 2039-4365
pISSN - 2039-4357
DOI - 10.4081/thal.2018.7286
Subject(s) - genotyping , sanger sequencing , thalassemia , genetics , prenatal diagnosis , exon , mutation , genomic dna , medicine , genetic counseling , genotype , biology , gene , microbiology and biotechnology , fetus , pregnancy
The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The β globin gene has 3 exons and 2 introns, involved in β-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of β globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric β 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.