Figure 1.

Sequencing analysis of the FANCM gene and transcript. (A) Genomic DNA fragment PCR amplified using both primers in exon 22 from an LCL carrying the c.5791C>T mutation. (B) cDNA fragment amplified by PCR using a forward primer in exon 22 and a reverse primer in exon 23. A strong reduction in the expression of the mutant allele was observed in both cycloheximide treated and untreated cells. cDNA from a non-carrier individual was used as a control. The position of the mutation is indicated by the arrows. Identical results were observed in an additional mutated LCL.