[FANCA gene mutation analysis in Fanconi anemia patients].

Abstract

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.

• Authors: Fei Chen, Guang-Jie Peng, Kejian Zhang, Qun Hu, Liu-Qing Zhang, Ai-Guo Liu
• Journal: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi (Zhonghua Xue Ye Xue Za Zhi) Vol. 26 Issue 10 Pg. 616-8 (Oct 2005) ISSN: 0253-2727 [Print] China
• PMID: 16532972 (Publication Type: English Abstract, Journal Article)

Chemical References

• Fanconi Anemia Complementation Group A Protein

Topics

• Cell Line
• DNA Mutational Analysis
• Fanconi Anemia (genetics, metabolism)
• Fanconi Anemia Complementation Group A Protein (genetics, metabolism)
• Humans
• Mutation