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You obtain a DNA sample from your patient and send it io a lab for sequencing. T

ID: 270516 • Letter: Y

Question

You obtain a DNA sample from your patient and send it io 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 151+ insrad oPa b) Is this a RANSVERSIODor a TRANSITION? c) What type of mutation is this REGULATORY, Or STRUCTURAD(in the coding region)? d) Is the mutation frameshift, missense, conservative,Hon-conservative nonsense or none of the above? Be sure to check with your amino acid codon chart. 1 agccctccag gacaggctgc atcagaagag gccatcaagc agatcactgt ccttctgcca 61 tggccctgtg gatgcgcctc ctgcccctgc tggcgctgct ggccctctgg ggacctgacc 121 cagccgcage ctttgtgaac caacacctgt (Ocggctcaca cctggtggaa getctctacc 181 tagtgtgegg ggaacgaggc ttcttctaca cacccaagac ccgecgggag gcagaggacc 241 tgcaggtggg gcaggtggag ctgggcgggg gecctggtge aggcagcctg cagcccttgg 301 ccctggaggg gtccctgcag aagcgtggca ttgtggaaca atgctgtacc agcatctget 361 ccctctacca gctggagaac tactgcaact agacgcagcc cgcaggcage cccacacccg 421 ccgcctcetg caccgagaga gatggaataa agcccttgaa

Explanation / Answer

III. The B chain of insulin is composed of 30 amino acids and A chain is composed of 21 amino acids. This condition is totally reserve of the original situation. There is the unnecessary addition of four amide group in the B chain and two on the A chain. These changes would lead to loss of functionality of the insulin protein. This kind of changes is known as a non-conservative mutation, this results in an amino acid change that different properties than the wild-type. This protein might lose its original function and might result in a disease.

IV. If the patient is carrying two different alleles of the same gene this condition is known as a heterozygous gene.

V. Individual carrying two mutant varieties of the same gene are lethal to the individual and results in death. This condition is known as homozygous recessive dominance.

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