Chen Fei, Peng Guang-Jie, Zhang Kejian, Hu Qun, Zhang Liu-Qing, Liu Ai-Guo
Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
Zhonghua Xue Ye Xue Za Zhi. 2005 Oct;26(10):616-8.
To screen the FANCA gene mutation and explore the FANCA protein function in Fanconi anemia (FA) patients.
FANCA protein expression and its interaction with FANCF were analyzed using Western blot and immunoprecipitation in 3 cases of FA-A. Genomic DNA was used for MLPA analysis followed by sequencing.
FANCA protein was undetectable and FANCA and FANCF protein interaction was impaired in these 3 cases of FA-A. Each case of FA-A contained biallelic pathogenic mutations in FANCA gene.
No functional FANCA protein was found in these 3 cases of FA-A, and intragenic deletion, frame shift and splice site mutation were the major pathogenic mutations found in FANCA gene.
筛选范可尼贫血（FA）患者的FANCA基因突变，并探讨FANCA蛋白功能。
采用蛋白质免疫印迹法和免疫沉淀法分析3例A型FA患者的FANCA蛋白表达及其与FANCF的相互作用。提取基因组DNA进行多重连接依赖探针扩增（MLPA）分析，随后进行测序。
这3例A型FA患者均未检测到FANCA蛋白，且FANCA与FANCF蛋白的相互作用受损。每例A型FA患者的FANCA基因均存在双等位基因致病性突变。
这3例A型FA患者均未发现有功能的FANCA蛋白，FANCA基因的主要致病性突变包括基因内缺失、移码突变和剪接位点突变。
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