Figure 3
From: A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin
An ethidium bromide-stained agarose gel containing 331-bp amplified product that was digested with AciI. The digested PCR products from a normal control individual (N), an affected individual (P) and a heterozygous carrier (C) are shown. The normal PCR product was digested into 188-bp and 143-bp fragments, whereas the 331-bp products with the A277V defect were not digested. A 100-bp DNA ladder is shown, left.