FANCA gene mutation analysis in Fanconi anemia patients.
- Author:
Fei CHEN
1
;
Guang-Jie PENG
;
Kejian ZHANG
;
Qun HU
;
Liu-Qing ZHANG
;
Ai-Guo LIU
Author Information
- Publication Type:Journal Article
- MeSH: Cell Line; DNA Mutational Analysis; Fanconi Anemia; genetics; metabolism; Fanconi Anemia Complementation Group A Protein; genetics; metabolism; Humans; Mutation
- From: Chinese Journal of Hematology 2005;26(10):616-618
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen the FANCA gene mutation and explore the FANCA protein function in Fanconi anemia (FA) patients.
METHODSFANCA 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.
RESULTSFANCA 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.
CONCLUSIONSNo 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.
