Gyrate atrophy is a degeneration of the retina that begins inlate adolescence as night blindness and progresses to blindness.The cause is mutation in the gene that encodes a mitochondrialenzyme, ornithine aminotransferase (OAT), on chromosome 10. Thisautosomal recessive inborn error of metabolism causes build up inbody fluids of ornithine, which derives from the amino acidarginine, found in dietary protein. Researchers sequenced the OATgene for five patients with the following results:
Patient A: A change in codon 209 of UAU to UAA
Patient B: A change in codon 299 of UAC to UAG
Patient C: A change in codon 426 of CGA to UGA
Patient D: A 2 base deletion at codons 64 and 65 that results ina UGA codon at position 79
Patient E: Exon 6, including 1,071 bases, is entirelydeleted.
1. Another patient, F, has the mutations seen in patients A andB. How is this possible?
