Onay Hüseyin, Aykut Ayça, Karaca Emin, Durmaz Asude, Solmaz Aslı Ece, Çoğulu Özgür, Aydınok Yeşim, Vergin Canan, Özkınay Ferda
Department of Medical Genetics, Ege University Faculty of Medicine, Bornova, Izmir, Turkey.
Int J Hematol. 2015 Jul;102(1):1-6. doi: 10.1007/s12185-015-1796-y. Epub 2015 May 5.
Molecular test results of 231 individuals referred to our molecular genetics laboratory for analysis of α-globin gene mutations between the years 2007 and 2013 were evaluated. Analysis of α-thalassemia gene mutations was performed using reverse dot-blot hybridisation, which includes 21 common mutations. Twelve distinct α-thalassemia mutations and 23 different genotypes have been detected in the Aegean region of Turkey. The most frequent mutations were -α3.7 (52.28 %), -(α)20.5 (14.74 %), --MED (10.53 %), and αPA-1α (8.77 %). Three α-thalassemia mutations (αcd142α, --SEA, and αICα), which are more prevalent in Southeast Asia, are identified for the first time in Turkey in this study. We find that a broad spectrum of α-thalassemia mutations is present in the Aegean region of Turkey. The results obtained in this study may help inform decisions in the design and implementation of prevention strategies and diagnostic approaches.
对2007年至2013年间转诊至我们分子遗传学实验室进行α珠蛋白基因突变分析的231名个体的分子检测结果进行了评估。使用反向点杂交技术对α地中海贫血基因突变进行分析，该技术包括21种常见突变。在土耳其爱琴海地区检测到12种不同的α地中海贫血突变和23种不同的基因型。最常见的突变是-α3.7（52.28%）、-(α)20.5（14.74%）、--MED（10.53%）和αPA-1α（8.77%）。本研究首次在土耳其发现了三种在东南亚更为常见的α地中海贫血突变（αcd142α、--SEA和αICα）。我们发现土耳其爱琴海地区存在广泛的α地中海贫血突变。本研究获得的结果可能有助于为预防策略和诊断方法的设计与实施提供决策依据。
