Molecular Characterization of -Thalassemia in the Dohuk Region of Iraq
Molecular Characterization of -Thalassemia in the Dohuk Region of Iraq
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DOI：
10.1080/03630260802626053
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发表时间：
2009-01-01
期刊：
影响因子：
1
通讯作者：
Najmabadi, Hossein
中科院分区：
文献类型：
--
作者：
Al-Allawi, Nasir A. S.;Badi, Ameer I. A.;Najmabadi, Hossein
地中海东部地区的几项研究已经解决了地中海贫血（-thal）的分子基础，但伊拉克的研究尚未阐明。为了解决这个问题，我们研究了来自伊拉克北部杜胡克地区的 51 名患有不明原因低色素症和/或小红细胞增多症的患者，以及 9 名有记录的 Hb H 病患者。为此，我们使用了多重间隙聚合酶链式反应 (gap-PCR)、反向杂交和测序。结果发现，在不明原因的低色素和/或小红细胞增多症患者中，最常见的基因型是-3.7/，其次是- -MED-I/，然后是-3.7/- 3.7，在上述个体中检测到的比例为84.3%。零星鉴定的其他基因型有 -4.2/、poly A1/ (AATAAAAATAAG)、Adana/ [Hb Adana，密码子 59 (GlyAsp) 或 HBA1:c.179GA] 和 Evanston/ [Hb Evanston，密码子 14 (TrpArg) 或 HBA1:c.43 TC]。 3 例（5.88%）即使在测序后仍没有特征。所有 9 例 Hb H 病例均携带 -3.7/- -MED-I 基因型。这些发现与其他东地中海人群的发现有很大不同，特别是与 Hb H 分子基础相关。
The molecular basis of -thalassemia (-thal) has been addressed by several studies from the eastern Mediterranean region, but not from Iraq. To address this issue, we studied 51 individuals with unexplained hypochromia and/or microcytosis, as well as nine patients with documented Hb H disease from the Dohuk region in northern Iraq. We used multiplex gap-polymerase chain reaction (gap-PCR), reverse hybridization, and sequencing for this purpose. It was found that the most common genotypes in those with unexplained hypochromia and/or microcytosis were -3.7/, followed by - -MED-I/, then -3.7/- 3.7, respectively, detected in 84.3% of the above individuals. Other genotypes identified sporadically were -4.2/, poly A1/ (AATAAAAATAAG), Adana/ [Hb Adana, codon 59 (GlyAsp) or HBA1:c.179GA], and Evanston/ [Hb Evanston, codon 14 (TrpArg) or HBA1:c.43 TC]. Three cases (5.88%) remained uncharacterized even after sequencing. All nine Hb H cases carried the -3.7/- -MED-I genotype. Such findings are rather different from those in other eastern Mediterranean populations, particularly with relevance to an Hb H molecular basis.