Download Figure 2 Representation of the steps required for DNA sequence

Supplementary Figure 1 Representation of the steps required for DNA sequence
analysis to detect a germline mutation. Family members of the index case, that is the
proband (arrow), are ascertained. After genetic counseling and obtaining informed
consent, venous blood samples are collected and leucocyte DNA extracted and used
with gene-specific primers for the polymerase chain reaction (PCR) amplification of
genomic DNA. The PCR products are separated by agarose gel electrophoresis and
purified. The DNA sequences of the PCR products are determined by Taq polymerase
cycle sequencing and the chromatograms resolved using an automated laser detection
system (e.g. a DNA sequencer).