BIOL 311 Lecture Notes - Lecture 21: Missense Mutation, Agarose Gel Electrophoresis, Wobble Base Pair

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Published on 4 Dec 2017
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BIOLOGY 311 — Lecture 33 Notes
POLYMORPHISMS IN REGION 2 (CODING REGION) RESULTING IN MUTATIONS
-Change usually results in one or more codons in the mRNA being changed
-The code for which a codon codes is said to be degenerate (more than one codon coding for
the same amino acid)
-Wobble position
-Change in this position is least likely to cause a change in the amino acid being coded for
-Third letter of a codon
-RNA polymerase bings at promoter to begin transcription (+1 site), and binds at terminator to
end transcription
-Band intensity on agarose gel represents concentration of a certain allele
-SNPs and SSLPs can become mutations in the coding region, however, they will result in
different types of changes in the protein
-Four different types of changes
(mutations) can result from SNPs
-Coding strand: same sequence as
mRNA, however, thymine (T) is
replaced with uracil (U)
-Synonymous mutation
-Also called a silent mutation
-Results in a nucleotide change
(SNP) which does not result in a
change in amino acid, thus,
protein produced will be the
same
-Nucleotide change most likely in
wobble position
-Missense mutation (conservative)
-Nucleotide change (not in wobble
position) results in a chemically
similar amino acid, but is not the same one (e.g. Arg to Lys
due to a change in codons from AGA to AAA)
-Small change
-Missense mutation (nonconservative)
-Nucleotide change (not in wobble position) results in a
chemically dissimilar amino acid (e.g. Arg to Ile due to a
change in codons from AGA to ATA)
-Big change
-Nonsense mutation
-Nucleotide change results in the stop codon (UAG)
appearing early on in the sequence (e.g. AAG to TAG)
-Results in formation of a shorter protein, because new
codon (STOP) doesn’t code for a protein, simply tells RNA
polymerase to terminate early
-Western blot
-Used to detect the effect of an SNP on protein expression, i.e.
look at effects of translation on protein production
-A smear on the this blot indicates the presence of proteins
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