Figure 1

(A) Multiplex Ligation-dependent Probe Amplification (MLPA). Denatured genomic DNA (50–500 ng) is hybridised with a mixture of 42 probes. Each MLPA probe consists of two oligonucleotides. The two parts of each probe hybridise to adjacent target sequences and are ligated by a thermostable ligase. All probe ligation products are amplified simultaneously by PCR using a single primer pair. The amplification product of each probe has a unique length (130–472 bp). Amplification products are separated by capillary electrophoresis (ABI model 310 or ABI 3700). Relative amounts of probe amplification products reflect the relative copy number of target sequences. (B) Deletion of the entire MLH1 gene detected by MLPA. Normalised MLPA peak pattern from the index patient of family C149 (red) and from control DNA (blue) plotted in one figure for easy comparison. MLH1 peaks are labelled with their exon numbers. Unlabelled peaks represent MSH2 exons and control genes.