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Figure 3 Quantification and distribution of the A4300G mutation in family 1. (A) Scheme of the restriction fragment length polymorphism (RFLP) analysis performed. A single HinfI site cuts the wild-type polymerase chain reaction-amplified product of 239 bp into two fragments of 180 and 59 bp. In the presence of the A4300G mutation, a mismatched reverse primer creates a new HinfI recognition site that cuts the 180-bp fragment into two smaller products of 158 and 22 bp. (B) Labeled products generated by the RFLP analysis were separated through a 12% nondenaturing polyacrylamide gel. Fragment sizes (bp) are shown on the right. mtDNA = mitochondrial deoxyribonucleic acid.
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