[FANCA gene mutation analysis in Fanconi anemia patients].
OBJECTIVE
To screen the FANCA gene mutation and explore the FANCA protein function in Fanconi anemia (FA) patients.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Chen
Fei
F
Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
Peng
Guang-Jie
GJ
Zhang
Kejian
K
Hu
Qun
Q
Zhang
Liu-Qing
LQ
Liu
Ai-Guo
AG
D002460:Cell Line; D004252:DNA Mutational Analysis; D005199:Fanconi Anemia / Q000235:genetics* / Q000378:metabolism; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation
D052217:Fanconi Anemia Complementation Group A Protein