Figure 3. .

Sequence analysis (A) identified mutation c.215G→A resulting in the exchange p.Gly72Glu in exon 3A of the human mitochondrial PiC gene SLC25A3. The mutation was also shown by RFLP analysis (B) with the PCR primers Exon3A, 5′-TTCTTTCATTCCAGTGGCCT-3′ (forward) and 5′-AAAACAAACCTGCATTCTGC-3′ (reverse), with a PCR product of 206 bp. Digestion with MnlI (Fermentas) resulted in three fragments (119.5 bp, 58 bp, and 28.5 bp) for the normal allele and in two fragments (177.5 bp and 28.5 bp) in the mutated allele. St = DNA ladder, low range (Fermentas).