Biology 1201A Lecture Notes - Lecture 3: Single-Nucleotide Polymorphism, Ap Site, Depurination
25 Nov 2016
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Document Summary
Link between dna and phenotype: sequences of nucleotides code for amino acids. Transcription and translation: polypeptide(chains of amino acids)- proteins(takes functional shape); difference is structure. Function as : cell structures, communication molecules, enzymes, transporters, etc, changes in the nucleotide sequence can affect the coded protein, giving rise to different alleles ex. antibiotic resistance. How do changes in the genome happen: during replication something might go wrong, damage to the cell ex. radiation. Sequence variation: small changes in nucleotide sequence (e. g. snp; single nucleotide polymorphism: tautomeric shifts: spontaneous shift between constitutional isomers of bases, resulting in alternative h-bonding pattern (allowing g to bond with t, and a to bond with c) Structural variation: changes in the physical arrangement of genes (or nucleotide sequences) on chromosomes - bigger scale changes (ex cnv- copy number variation: deletion/insertion, duplication- two copies, reciprocal translocation- non-homologous chromosomes, inversion- turn it upside down,
