Boussiou Marina, Karababa Photini, Sinopoulou Klio, Tsaftaridis Panagiotis, Plata Eleni, Loutradi-Anagnostou Aphrodite
National Centre for Thalassemia, WHO Collaborating Centre for the Community Control of Hereditary Diseases, Laikon General Hospital, KCS, GRE-21, Greece.
Blood Cells Mol Dis. 2008 May-Jun;40(3):317-9. doi: 10.1016/j.bcmd.2007.11.003. Epub 2007 Dec 21.
Beta-thalassemia is the most predominant genetic defect in Greece. In this study, we investigated the heterogeneity and the frequency of beta-thalassemia mutations among 3796 heterozygotes detected in the course of DNA based diagnoses. The diagnostic strategy included Denaturing Gradient Gel Electrophoresis (DGGE), Allele Specific Oligonucleotide Hybridization (ASO), GAP PCR, Restriction Enzyme (RE) analysis and direct sequencing and led to 100% identification of the underlying molecular lesion. Six out of 33 different beta-globin defects identified accounted for more than 91.4% of the total beta-thalassemia chromosomes in Greece. The beta-globin gene mutations cd29 C-->T, IVS-I-2 T-->C, IVS-I-5 G-->T, cd37 G-->A and poly A Kurdish AATAAA-->AATAAG are for the first time reported in Greece, whereas cd7 GAG-->TAG is a new beta(0)-thalassemia mutation detected in an adult man from Albania residing in Greece. Three DNA single nucleotide polymorphisms (IVS-I-85 T-->C, IVS-I-91 C-->T and IVS-I-108 T-->C) were also revealed; among these, IVS-I-85 T-->C and IVS-I-91 C-->T are new and described for the first time worldwide.
β地中海贫血是希腊最主要的遗传缺陷。在本研究中，我们调查了在基于DNA的诊断过程中检测出的3796例杂合子中β地中海贫血突变的异质性和频率。诊断策略包括变性梯度凝胶电泳（DGGE）、等位基因特异性寡核苷酸杂交（ASO）、间隙PCR、限制性酶（RE）分析和直接测序，从而100%鉴定出潜在的分子病变。在鉴定出的33种不同的β珠蛋白缺陷中，有6种占希腊β地中海贫血染色体总数的91.4%以上。β珠蛋白基因突变cd29 C→T、IVS-I-2 T→C、IVS-I-5 G→T、cd37 G→A和聚腺苷酸库尔德型AATAAA→AATAAG首次在希腊被报道，而cd7 GAG→TAG是在居住在希腊的一名来自阿尔巴尼亚的成年男性中检测到的一种新的β0地中海贫血突变。还发现了三种DNA单核苷酸多态性（IVS-I-85 T→C、IVS-I-91 C→T和IVS-I-108 T→C）；其中，IVS-I-85 T→C和IVS-I-91 C→T是新的，并且首次在全球范围内被描述。
