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. 2002 Dec 9;72(1):101–114. doi: 10.1086/345489

Figure 4.

Figure 4

Sequence analysis of COX15. DNA sequence analysis of COX15 cDNA (A) and genomic DNA (C) from patient fibroblasts identifies the two pathogenic mutations: a C700T transition mutation in exon 5 and a C447-3G mutation in the splice acceptor of intron 3. The mutations shown are on the sense strand. The C700T mutation was confirmed by RFLP analysis with StyI (B). When the mutation is present, the enzyme digests a 598-bp PCR product once, producing two fragments of 402 and 196 bp. The wild-type PCR product remains uncut. A PCR utilizing a mismatch reverse primer to create a ScrfI site in wild-type DNA was used to confirm the C447-3G mutation (D). ScrfI digests wild-type DNA to yield 162-bp and 30-bp fragments (latter not shown). The intron C447-3G mutation abolishes the ScrfI site. Panels B and D, C = control, N = patient N, U = undigested PCR product.