Miri-Moghaddam Ebrahim, Zadeh-Vakili Azita
Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
Hemoglobin. 2012;36(5):456-63. doi: 10.3109/03630269.2012.712928.
This study was performed to determine the molecular spectrum of β-thalassemia (β-thal) mutations in at-risk couples from Khorasan-e-Jonobi Province in East Iran. During the past 9 years, 106 couples were referred to our Center for detection of their β-thal carrier status. Samples were initially tested for the most common Iranian α- and β-thal mutations by gap-polymerase chain reaction (gap-PCR) and amplification refractory mutation system (ARMS)-PCR, respectively. In cases with negative results, direct DNA sequencing was used to identify additional β-globin mutations. Fetal DNA was obtained from chorionic villus sampling (CVS) (n = 55), 47.2% were referred during pregnancy and 23.0% of couples underwent more than one prenatal diagnosis (PND). Of the 14 mutations that were detected in Khorasan-e-Jonobi Province, Iran, the IVS-I-5 (G>C) and codon 44 (-C) mutations were the most frequently identified variants, representing 45.9 and 24.8% of the total; these were followed by three mutations in the following order: -88 (C >T) (5.3%); codons 8/9 (+G), a rare mutation, and codons 37/38/39 [-7 nucleotides (nts)], each with a frequency of 4.5%. These findings provide complementary information on the region specific profile of β-thal in eastern Iran.
本研究旨在确定伊朗东部霍拉桑-乔诺比省高危夫妇中β地中海贫血（β-地贫）突变的分子谱。在过去9年中，106对夫妇被转诊至我们中心检测其β-地贫携带状态。样本最初分别通过缺口聚合酶链反应（gap-PCR）和扩增阻滞突变系统（ARMS）-PCR检测伊朗最常见的α和β-地贫突变。对于结果为阴性的病例，采用直接DNA测序来鉴定其他β-珠蛋白突变。从绒毛取样（CVS）获取胎儿DNA（n = 55），47.2%在孕期被转诊，23.0%的夫妇接受了不止一次产前诊断（PND）。在伊朗霍拉桑-乔诺比省检测到的14种突变中，IVS-I-5（G>C）和密码子44（-C）突变是最常鉴定出的变异，分别占总数的45.9%和24.8%；其次是以下三种突变，顺序如下：-88（C>T）（5.3%）；密码子8/9（+G），一种罕见突变，以及密码子37/38/39[-7个核苷酸（nts）]，每种频率均为4.5%。这些发现为伊朗东部β-地贫的区域特异性概况提供了补充信息。
