ctgc atcagaagag gecatcaagc agatcactgt ccttctgccaSta tvipket 61 tgpccetgtg gatgeg
ID: 270330 • Letter: C
Question
ctgc atcagaagag gecatcaagc agatcactgt ccttctgccaSta tvipket 61 tgpccetgtg gatgegecte ctgeceetgc tsgecgetgct sgcctctoo cpace 121 cagccgcage cttgtgaac caacacctet geggctcace ectggtggaa getctctacrst evon 181 tagtgtgcgg ggaacgaggc ttcttctaca cacccaagac cçaccaggag gcagaggacc 241 tgcaggtggg gcaggtggag ctgggcgggg gccctggtgc aggcagcctg cagcccttgg 301 ccctggaggg gtccctgcag aagcgtggca ttgtggaaca atgctgtacc agcatctgct 361 ccctctacca gctggagaac tactgcaact aqacgcagcc cgcaggcage cccacacccg poypepfide A 421 ccgcctcctg caccgagaga gatggaataa agcccttgaa ccagcaaaa second exon 32 poly adenyldtion sianal (aortaaa) II. You obtain a DNA sample from your patient and send it to a lab for sequencing. They send back the following sequence of pro-insulin. Compare the sequence of the normal gene to that of the patients. (4 points) a) What difference have you found? at 15 b) Is this a TRANSVERSION or a TRANSITION? c) What type of mutation is this REGULATORY, or STRUCTURAL (in the coding region)? d) Is the mutation frameshift, missense, conservative, non-conservative, nonsense or none of the above? Be sure to check with your amino acid codon chart. 1 agccctccag gacaggctgc atcagaagag gccatcaagc agatcactgt cettetgcca 61 tggccctgtg gatgcgcctc ctacccctgc tggcgctgct ggccctctgg ggacctgacc 121 cagecgcage ctttgtgaac caacacctgt Oeggctcaca cetggtggaa getctctace 181 tagtgtgegg ggaacgaggc ttettctaca cacccaagac cegccgggag gcagaggacc 241 tgcaggtggg gcaggtggag ctgggcgggg gecctggtge aggcagcetg 301 361 ccetctacca getggagaac tactgcaact agacgcagcc cgcaggcage cccacacccg 421 ccgcctcctg caccgagaga gatggaataa agcccttgaa ccagcaaaa cagcecttgg ccctggaggg gtccctgcag aagcgtggca ttgtggaaca atgetgtacc agcatetgct
Explanation / Answer
a. The difference is found at 151st position of t in proinsulin being changed to g in patient, thus coding for gcg instead of tcg (151-152-153 codes for an amino acid)
b. This is Transversion, as the change is between a purine and a pyrimidine. (Note: purine-purine or pyrimidine-pyrimidine change is called Transition)
c. Structural mutations are the ones that affect enzymes and structural proteins. Therefore, this is a STRUCTURAL MUTATION.
d. GCG is alanine. TCG is serine.
Alanine is a hydrophobic amino acid, while Serine is a non-charged, polar amino acid. The properties of two amino acids change. A type of non synonymous substitution mutation is where an amino acid changes due to a point mutation, such that the amino acids coded (wild and mutated) will have different properties. This is NON-CONSERVATIVE MUTATION, as is observed in the question here.
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