Figure 2.

(A) Sequence of the mitochondrial tRNA^Trp gene in DNA isolated from the patient's muscle. The arrow indicates the C5545T mutation. (B) Alignment of sequences of the anticodon loop of tRNA^Trp from different eukaryotic species. (C) PCR–RFLP analysis of the mutation in different tissues of the patient and of his mother. Radiolabeled fragments, after digestion with DraI, were separated on a gel, visualized and quantitated using a BioRad phosphor imager. The wild-type yields a single fragment of 286 bp, the mutant two fragments of 197 and 89 bp. In red patient tissues. M, skeletal muscle; BL, blood leukocytes; F, hair follicles; US, urinary sediment; HF, hair follicles; BS, buccal smear; C, healthy control; U, uncut fragment. (D) Schematic representation of the structure of wild-type and mutant tRNA^Trp and the possible consequences of the mutation in the anticodon on codon recognition.