[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.