SMP: Genetics 1
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- Missense Mutation
- nucleotide change leads to AA change. C-->T most common. Transversions (Pyridine to Purine) or transitions (Purine to Purine/Pyridine to Pyridine). 3 outcomes: Conservative: AA changes to a similar AA. Non-conservative: changes AA by function or charge. No change in basepair, but changes RNA splice recognition site. CpG dinucleotide is a mutation hotspot because C frequently methylated, and then spontaneously deaminated to T.
- 6 month old child found to have leucocoria (white pupil) Father gives the history that his mother had only one eye because the other was removed when she was a baby. He and his 2 sibs were healthy and have both eyes
- REDUCED PENETRANCE of this trait