The β-thalassemia mutation spectrum in the Iranian population
The β-thalassemia mutation spectrum in the Iranian population
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DOI：
10.1081/hem-100105221
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发表时间：
2001-01-01
期刊：
影响因子：
1
通讯作者：
Karimi-Nejad, MH
中科院分区：
文献类型：
--
作者：
Najmabadi, H;Karimi-Nejad, R;Karimi-Nejad, MH
β地中海贫血是伊朗最常见的遗传性疾病。伊朗有200多万β-地中海贫血携带者。由于伊朗人口是不同民族的混合体，因此有必要确定突变在该国不同地区的频率和分布。为此，我们根据人口的地理和种族分布将伊朗分为八个不同的地区。应用扩增难扩增突变系统-聚合酶链式反应技术，对164例患者和889名无关携带者的1217条β-地中海贫血染色体进行了长达10年的研究。我们在研究的染色体中检测到81%的β-地中海贫血突变。IVS-II-I(G->；A)是本研究中发现的主要突变(34%)。IVS-I-5(G->；C)突变较常见，IVS-I-5(G->；C)(7.55%)、密码子8/9(+G)(4.76%)和IVS-I-110(G->；A)(4.76%)是其他最常见的突变。本研究结果可作为伊朗不同地区β-地中海贫血产前诊断的依据。
beta -Thalassemia is the most common hereditary disease in Iran. More than two million carriers of beta -thalassemia live in Iran. Since the Iranian Population is a mixture of different ethnic groups, it is necessary to determine the frequency and distribution of mutations in the different parts of the country. For this purpose, we divided Iran in to eight different regions according to the geographic and ethnic distribution of the population. Over a 10-year period 1,217 beta -thalassemia chromosomes of 164 affected patients and 889 unrelated carriers were studied using the amplification refractory mutation system-polymerase chain reaction technique. We detected 81% beta -thalassemia mutations in the studied chromosomes. IVS-II-I (G --> A) was the predominant mutation found in our study (34%). Its relative frequency in the north was much higher than other regions, and it lessened toward the south, where the IVS-I-5 (G --> C) mutation was more common, IVS-I-5 (G --> C) (7.55%), codons 8/9 ( + G) (4.76%), and IVS-I-110 (G --> A) (4.76%) were the other most common mutations. The results presented here can be used as a basis of prenatal diagnosis of beta -thalassemia in different regions of Iran.