MUTATIONS

Somefirnes when DNA is copied (replicated) errors occur< We tiese When frtese mutations in gametes, they
have the potenüal of being passed on to offspring and therefore will affect the next generaton. Sometimes m}Äions cause only
minor charvs to a gene and therefore make only minor changes in the protein produced from tlat gene, These types of mutations
may only minor effects to tie phenotype of an organism, But someümes mutafions can cause great changes to the gene and
therefore greaØy alter tie protein that made from that gene. This will likely have great effects on organism, since the protein will
not be able to perform normal funcion. This may lead to the inheribnce of a genetic disease.

6. POINT MUTATION 1: One mutaüon is called a where onby one base in DNA is copied incorrectly during DNA
replication. Here is your original DNA sequence from this lab and amino acid sequence that was tansiated from it:

4! 516} 7}

CÆGAGCC{ACTGAGC G C T G CA g G C C GAG E C CT G TGEAAA

ARG LEU ASP VAL SER ARG EIS ILE ! STOP

a. Lets Smulate a point mutation at the 24åt base. It was accidentally changed during from a G to a C.
Now tanscribe this new DNA stand into and then translate it into its amino acid sequence.

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o! 1 12 314
CT GAG CTACITGAGCTGAGC GCA AGCCGAGCTCCL'GT A C T f G

b. Did fris change in the DNA squence cause significant change to the protein produced? E*n.
 c. is the name ofthis type of point mubtion and is it referred to by fris terminology?

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POINT MUTATION 2: Here is your original DNA sequence from this lab and the amino add sequence that was translated from it

* 1 * 2} 3 4 t 5 6 i 718 i 9 go 8} 9ioi1 2 \ 3.4 8 i 9' o

a. Now, lefs simulate a point mutaüon at the 1$ base. It was accidentally changed during replication from a g to an Now
transcribe this new DNA strand into mRNA and then translate it into its amino acid sequenæ

11 f 1 t i 2 2 212 i 2 i Q? 2 i 2
34 213 4 0123 j {617

b. Did this change in the DNA sequence cause any significant change to tie protein produced? Explain.
 c. What is the name of this type of point mutation and why is it referred to by fis terminology?

d. Why could a in a gamete have more profound biological than a mutaüon in a somatic ceil?

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9. Sidde celi anemia is an example ofa gerefic disease caused by a point

a. Describe tie speäfic DNA changes that produce the abnomal sickle cell hemoglobin.

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b. Explain the structural effect fiat this point mutation has on the hemoglobin protein.

enmoes).

c. Explain why fie sicke cell mutation is selected for in certain areas of the world*
10. FRAMESHIFT MUTATION 1: AnotEr group of is æl!ed frameshift mutations where at least one base is either

added to or deleted from the DNA as it is copied during Lets invesügate the of these.

a, Here is your origu DNA squence from tli$ lab and the amino acid sequenæ frat was translated from it

ARG LEU ASP Vu SER ARG GLY HIS ILE STOP

b* Let's simulate a frameshift mutation by Adding an addifional base beuteen the 36tl & 37b bases. The base A was
accidentally added to the sequence of the gene. Now tanscribe this new DNA strand into mRNA, and hen also translate it

c. Did this change in the DNA sequence cause any significant change to the Explain.

woo C

so doe M
d. Why are insertions and deletions called frameshif mutationsn and what is meant by trw *reading of a gene?

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 11. FRAMESHIFT MUTATION 2: Here is your origmal DNA sequence from this jab and the amino acid sequence that was translated
from it:

o} 1 12 314 3816 7 a} 9 0 1 i 6 7

a. Now lets simulate a frameshift mutation by deletinq the base. Now transcribe this new DNA strand into mRNA and then
also translate it into its amino acid sequence.
313 3: 3 [3 13 4} 4 t 4 i 4 4
1 2 56 7 oil 1213 516.7

ASP •Q xp Cal u
b, Did this change in the DNA sequence cause any significant change to the protein produced? Explain.

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c. do you think would cause a more profound biological impact: (1) a deleüon/insertion near the beginning of a genes or
(2) a deleioMinsa•tion towards the end of a gene? EVains

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12. Cystic fibrosis is an example of a geneticdisease-caused<bya frameshift mutationp

a. Desci%e fre spedfic DNA changes that produce the abnormal cystic fibrosis protein (the delta F508 mutaüon).

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b. Explain the structural and functional effects that this frameshift mutation has on lung cells.

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c. Explain why cystic fibrosis shortens life spam

13. Are m&üons always deleterious? What is the evolutionary value of mutations? Explain.