HMB265H1 Lecture Notes - Nonsense-Mediated Decay, Consensus Sequence, Intron
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HMB265H1 Full Course Notes
Verified Note
25 documents
Document Summary
Development of de novo mutations if present in germ cell, passed onto offspring. Nonsense mediated decay keep in mind when interpreting individuals" phenotypes. Splicing mutations increasing percentage of mutations due to splicing. Aberrant splicing notable can lead to loss or gain of function . Exon splicing enhancers and silencers within the sequence if they interfere with the strength or contribute to or inhibit strength of binding sites identified largely because have been observed in rna analysis of tissue . Genetic diseases physical changes diseases occur in different frequencies population vary for various reasons due to history of particular population, possibly isolated by geography or culture see unique features of particular disease. Also disease frequencies influenced by migration, environmental aspects and pressures. One mutation that explains many alleles across populations this is three base pair deletion test first used to depict this. Oligo-n is normal oligo; affected son in family a does not have normal oligo.
