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Figure 2. Two germ-line mutations of the PTCH gene identified in two patients with Gorlin syndrome (A,B). Sequences of the wild-type control (left), the patient’s peripheral blood (middle), and cyst (right) are shown. (A) The peripheral blood and cyst of syndrome patient #1 showed a C to A substitution (arrows), introducing a stop condon at amino acid residue 873 in exon 16. (B) Sequencing of exon 9 revealed an insertion of 3 nucleotides (highlighted in small box) between codons 446 and 447, causing an insertion of alanine in the peripheral blood and cyst of syndrome patient #2. (C) MluI digestion of exon 9 PCR products from the cyst (P1) and peripheral blood (P2) of syndrome patient #2 and the unrelated control DNAs (C1-C3). The insertion created a restriction site with fragments of 97 and 191 bp, as well as the undigested fragment of 284 bp. In the unrelated controls, only the 284-bp fragment was seen. MW, molecular-weight ladder; *enzyme digest.
