FANCA gene mutation analysis in Fanconi anemia patients / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 616-618, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-255831
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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Cell Line
/
Fanconi Anemia Complementation Group A Protein
/
Fanconi Anemia
/
Genetics
/
Metabolism
/
Mutation
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2005
Type:
Article
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