FANCA gene mutation analysis in Fanconi anemia patients / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 616-618, 2005.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Linhagem Celular
/
Proteína do Grupo de Complementação A da Anemia de Fanconi
/
Anemia de Fanconi
/
Genética
/
Metabolismo
/
Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Hematology
Ano de publicação:
2005
Tipo de documento:
Artigo
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