BIOL 1090 Lecture Notes - Lecture 9: Wild Type, Zygosity, Antennapedia
Document Summary
The efects of single base mutaions vary enormously. Lysine and arginine are similar to each other, whereas serine and arginine are not. Truncate=stop codon introduced and pepide ends prematurely. similar. A single base change in the beta goblin gene causes sickle cell anemia (missense mutaion) The efect of base pair inserions & deleions (indels) Introduces a single nucleoide to the series that changes all nucleoide pairs aterwards, and therefore the enire polypepides are changed. Three nucleoides will have such a dramaic efect as it only changes one amino acid and the rest of the chain is unchanged. At least 15 human inherited disorders result from expanding triplet/trinucleoide repeats. Usually, 40 copies of the triplet repeat are stably inherited. Larger number of copies are unstable and prone to expansion. The expanding triplet/trinucleoide repeat diseases can show increased severity and/or earlier onset from one generaion to the next. Therefore the mutaion eventually stops when members die out.