先天性红细胞生成异常性贫血：分子见解与诊断方法。
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach.
机构信息
Centro di Ingegneria Genetica, Biotecnologie Avanzate, Naples, Italy;
出版信息
Blood. 2013 Sep 26;122(13):2162-6. doi: 10.1182/blood-2013-05-468223. Epub 2013 Aug 12.
Abstract
The congenital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morphologic abnormalities of marrow erythroblasts. The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23). KIF23 encodes mitotic kinesin-like protein 1, which plays a critical role in cytokinesis, whereas the cellular role of the proteins encoded by CDAN1 and SEC23B is still unknown. CDA variants with mutations in erythroid transcription factor genes (KLF1 and GATA-1) have been recently identified. Molecular diagnosis of CDA is now possible in most patients.
摘要
先天性红细胞生成异常性贫血（CDA）是一组遗传性疾病，其特征为骨髓红系前体细胞有明显的形态学异常。随着主要 CDA 亚组（I-CDAN1 和 II-SEC23B）突变基因的发现，最近又确定了 CDA III 基因（KIF23）。KIF23 编码有丝分裂驱动蛋白样蛋白 1，在胞质分裂中起关键作用，而 CDAN1 和 SEC23B 编码的蛋白的细胞作用尚不清楚。最近还发现了红细胞转录因子基因（KLF1 和 GATA-1）突变的 CDA 变异体。目前大多数患者都可以进行 CDA 的分子诊断。
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