Kluzek Katarzyna, Zdzienicka Małgorzata Z
Department of Molecular Cell Genetics, Nicolaus Copernicus Collegium Medicum in Bydgoszcz, 9 M. Sklodowskiej-Curie St., 85-094 Bydgoszcz, Poland.
Postepy Biochem. 2005;51(4):387-94.
FA is a rare genetic disorder characterized by developmental abnormalities, bone marrow failure and cancer susceptibility. Cells that are derived from patients with FA display spontaneous chromosomal instability and hypersensitivity to DNA crosslinking agents that is used in FA clinical diagnostics. FA is genetically heterogeneous and caused by mutations in at least 11 distinct genes, FANCA, FANCA, B, C, D1, D2, E, F, G, I, J and L. FA proteins interact with various proteins involved in DNA damage response and cell cycle checkpoint regulation, such as: RAD51, BRCA1, BRCA2, ATM or NBS1. Moreover, BRCA2 that plays a crucial role in homologous recombination is one of FA proteins. Collectively, all these data indicate, that the FA pathway is involved in different molecular processes that prevent DNA and control genomic stability, although its precise role still remains undefined.
范可尼贫血（FA）是一种罕见的遗传性疾病，其特征为发育异常、骨髓衰竭和癌症易感性。来自FA患者的细胞表现出自发性染色体不稳定以及对FA临床诊断中使用的DNA交联剂高度敏感。FA在遗传上具有异质性，由至少11个不同基因（FANCA、FANCB、C、D1、D2、E、F、G、I、J和L）的突变引起。FA蛋白与参与DNA损伤反应和细胞周期检查点调节的各种蛋白质相互作用，例如：RAD51、BRCA1、BRCA2、ATM或NBS1。此外，在同源重组中起关键作用的BRCA2是FA蛋白之一。总体而言，所有这些数据表明，FA途径参与了不同的分子过程，这些过程可预防DNA损伤并控制基因组稳定性，尽管其确切作用仍不明确。
