Rachel A. Gibson, Manuel Buchwald, Roland G. Roberts, Christopher G. Mathew; Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Mol Genet 1993; 2 (1): 35-38. doi: 10.1093/hmg/2.1.35
A cDNA for Fanconi anaemia complementation group C (FACC) has recently been cloned. We have now isolated a yeast artificial chromosome clone containing the FACC gene, and used vectorette PCR to determine its exon structure. The 1674-nucleotide coding sequence of the gene is highly interrupted, and contains 14 exons ranging in size from 53–204 bp. All exon donor and acceptor splice sites fit well with consensus sequences. Knowledge of the FACC exon boundaries and adjacent intron sequences was used to design polymerase chain reactions for amplification of all 14 exons from genomic DNA. Characterisation of splice site mutations in Fanconi anaemia patients with abnormal FACC transcripts and screening of large numbers of patients for mutations by amplification of the coding sequence from genomic DNA will now be possible.