Figure 4
Gel electrophoresis of CSTB dodecamer repeats. Detection of the expanded CSTB dodecamer repeat mutation was achieved by PCR, and amplified products were analysed on a 1% agarose gel against a 100-bp DNA ladder. In lanes 2, 5 and 6, the arrow indicates a fragment of approximately 193 bp, indicating the normal allele. In lane 7, the presence of two fragments of 193 bp and 625 bp confirms that this patient is a heterozygous expansion carrier. In lane 8, the presence of the fragment of approximately 625 bp confirms that this patient is a homozygous expansion carrier.