Al-Ali Amein K, Al-Ateeq Suad, Imamwerdi Burhan W, Al-Sowayan Saleh, Al-Madan Mohammed, Al-Muhanna Fahad, Bashaweri Laila, Qaw Foad
Department of Biochemistry, College of Medicine, King Faisal University, Dammam 31451, Saudi Arabia.
J Biomed Biotechnol. 2005;2005(4):322-5. doi: 10.1155/JBB.2005.322.
beta-thalassemia is a group of heterogeneous recessive disorders common in many parts of the world. Al-Qatif and Al-Hassa oases in the Eastern Province of Saudi Arabia are regions known for high frequency of these disorders. Using two molecular methods, based on multiplexing-amplification refractory system and reverse hybridization principles, the spectrum of beta-thalassemia in the region was studied. Sixty-nine subjects with known beta-thalassemia disease and volunteers with high hemoglobin $A(2)(HbA(2))$ and low mean corpuscular volume (MCV) were included in this study. Ten mutations were detected in 91% of the subjects under study. Six of these mutations had previously been observed while the other four mutations are reported here for the first time. In addition, four of the mutations accounted for 76.8% of the subjects studied. IVSII-1 (G > A), IVSI-5 (G > A), and codon 39 (C > T) mutations were found to be the most frequent. However, the frequencies of different mutations reported here are slightly different from those reported earlier. A number of these mutations were also found in the neighboring countries, which can be explained in terms of gene flow.
β-地中海贫血是一组在世界许多地区常见的异质性隐性疾病。沙特阿拉伯东部省的卡提夫和哈萨绿洲是以这些疾病的高发病率而闻名的地区。利用基于多重扩增不应性系统和反向杂交原理的两种分子方法，对该地区β-地中海贫血的谱系进行了研究。本研究纳入了69名已知患有β-地中海贫血的受试者以及血红蛋白A2（HbA2）高、平均红细胞体积（MCV）低的志愿者。在所研究的受试者中，91%检测到了10种突变。其中6种突变此前已被观察到，而其他4种突变在此首次报道。此外，其中4种突变占所研究受试者的76.8%。发现IVSII-1（G>A）、IVSI-5（G>A）和密码子39（C>T）突变最为常见。然而，这里报道的不同突变的频率与早期报道的略有不同。在邻国也发现了许多这些突变，这可以从基因流动的角度来解释。
