FANCA gene mutation analysis in Fanconi anemia patients / 中华血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To screen the FANCA gene mutation and explore the FANCA protein function in Fanconi anemia (FA) patients.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>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.</p>