Abstract
Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, predisposition to cancers, and a diverse variety of congenital malformations. At least eight complementation groups, A through H, have been described. Recently, the FA-A gene (FAA) has been isolated, and a large number of distinct mutations reported in ethnically diverse FA-A patients. Here, we report on the mutation analysis of five FA patients by single- strand conformation polymorphism. Out of five patients, at least three were found to have mutations in the FAA gene. The first patient was a compound heterozygote with a 1-bp deletion and a single-base substitution. The second patient had a heterozygous 2-bp deletion, which introduces a premature termination codon, and the third patient had a heterozygous splice donor site mutation in intron 27.
Original language | English |
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Pages (from-to) | 48-51 |
Number of pages | 4 |
Journal | Journal of Human Genetics |
Volume | 44 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1999 |
Keywords
- Direct sequencing
- FAA gene
- Fanconi anemia
- Mutation
- Polymorphism
- SSCP
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)