D1.3. Mutations and Gene Editing

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61 Terms

1
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State the two reasons why mutations in DNA are rare/ DNA is stable.

  • noticing errors and correcting them are possible in the synthesis of DNA strands

  • complementary base pairing allows the proper nucleotides to be added

2
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State the characteristics of mutations.

  • rare

  • random

  • happens in individuals unless occurred in reproductive cells

  • likelihood of happening does not depend on its benefits or harms

  • No natural method of creating mutations

  • can be harmful

  • can be beneficial

  • can have no effect on organism

  • can affect coding and non-coding regions

3
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State the three types of point mutations.

  1. substitution

  2. insertion

  3. deletion

4
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Define substitution mutation

Replacement of a base of a nucleotide.

5
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Define insertion mutation

Adding of extra nucleotide

6
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Define deletion mutation

Removal of nucleotide

7
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State the three consequences of base substitutions in coding regions (molecular level).

  1. Same-sense mutation

  2. nonsense mutation

  3. mis-sense mutation

  • protein does not function properly

  • whether it is beneficial or harmful depends on what protein is affected

8
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Describe same-sense mutation (silent mutation)

  • substitution mutation occurs

  • no change in amino acid sequence

    • codons are different but they still code for the same amino acid due to degenerate genetic code

    • does not affect the phenotype

9
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Define degenerate genetic code

Different sets of codons (group of 3 nucleotides) can code for the same amino acid

10
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Describe nonsense mutation

  • substitution of the base in nucleotide leads to the creation of STOP-CODON (UAG, UAA, UGA)

    • results in a shorter polypeptide

11
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Describe mis-sense mutation

  • substitution of base leads to the creation of a different amino acid

    • polypeptide combination is different

12
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State an example of mis-sense mutation

sickle cell anemia

  • in hemoglobin gene of red blood cells

  • amino acid changes from glutamic acid → valine

    • CTC → CAC

    • GAG → GUG

      • Adenine substituted by Thymine

      • shape of hemoglobin molecule changes from plate → sickle

13
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State the reason behind different base sequences in the genetic code

Mutations

14
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Define single nucleotide polymorphism (SNP)

  • Areas in genetic code with possibilities of different nucleotides across individuals due to accumulation of base substitutions over time.

    • Change in the structural level

      • because it affects phenotypes

    • A consequence of a substitution

15
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State the cause of SNP

several base substitutions over time

16
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Define reading frame

Method of dividing base sequences into codons to read the amino acid

17
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State the effects of insertion or deletion mutation

  • change reading frame

    • more/ less amino acids in polypeptides

  • the original coded for amino acid is not coded for anymore

18
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State the two substitution mutations that are harmful

insertion and deletion

19
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State the two major causes of mutations.

  1. error in replication

    • wrong nucleotide in the genetic sequence

    • Rare

  2. Mutagens

    • chemically cause different bases in the DNA sequence

    • example:

      • radiation

20
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State the effects of mutations in somatic cells

not passed down to offspring

21
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State the effects of mutations in germ cells (gamete-producing cell)

  • passed to offspring

  • most harmful

22
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Define alleles

Different forms of a gene

23
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State the role of an allele

Expresses a trait

ex: brown, green, or blue eye color

24
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Define gene

  • section or fragment of a DNA that represents a trait

  • refers to the location of a DNA (locus)

25
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State the characteristic of a gene

  • same locus for same trait in same species

  • ex: same location of gene that codes for eye color in humans

26
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Explain the difference between genes and alleles

Genes represent a certain trait (ex. eye color) and alleles express them in different ways (ex. blue, green, or brown).

Genes are certain locations in a DNA strand while alleles are unique base sequences within that gene/ fragment of DNA

27
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State the difference between different alleles

Different base sequences

28
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State how new alleles arise.

from mutations

29
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State the two information necessary to edit genes

  • location of gene within genome

  • what gene does

30
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Describe the use of Open Reading Frame (ORF)

to locate genes using characteristic base sequences

31
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Define the function of characteristic base sequences

usually starts a gene

help in identifying patterns

32
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Define Gene Knockout

A technique to determine the function of a gene

33
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Define Point Mutation

gene mutation where the base sequence of a codon is changed

34
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Chromosomal Mutation

Changes in the chromosomal level (research more)

35
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Trisomy 21

Extra chromosome (research more)

36
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Define gene mutation

change in the base sequence of a gene; happens randomly

37
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Define codon

sequence of three nitrogenous bases that code for an amino acid

38
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State where the codon is found

mRNA

39
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Explain why genetic mutation is beneficial

source of genetic variation → helps us survive better

40
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State when mutations are passed onto offsprings

Mutations in gametes (egg and sperm)

41
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State the two types of point mutations in frame shift mutation

  • deletion

  • insertion

42
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Define frameshift mutation

shift in the reading of the codon
(can say that the DNA strand got longer or shorter)

43
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Define phenotype

physical traits

44
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Define BRCA1 gene

tumor suppressor gene by which the actual function includes DNA repair

  • mends double stranded breaks

  • correct mismatch in base pairing

45
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Explain BRCA1 gene mutation

  • insertion or deletion

    • higher chance of cancer due to:

      • lack of DNA repair

46
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State the example of mutations in somatic cell

oncogene mutation that causes cancer

47
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Define Open Reading Frame (ORF)

  • characteristic base sequences that help identify where genes are located

  • basically the base sequence of the gene itself

48
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State the name of the allele: BB

homozygous dominant

49
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State the name of the allele: bb

homozygous recessive

50
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State the name of the allele: Bb

heterozygous

51
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Explain the process of gene knockout

  • Use embryo

  • Delete one copy of the target gene

  • Grow cells into adult

  • Get two of the grown adults with the missing gene

  • Breed the two grown adults

    • B0 xB0 BB, B0, Bo, none

    • By checking what the offspring is missing, you can check what the gene was expressed for.

52
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Explain how embryos are made

Egg cell + sperm cell

egg cell fertilized

egg cell mitosis

53
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Explain why gene knockout uses embryos

ADD LATER, RESEARCH

54
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Define highly conserved sequences

  • base sequences that are identical over long periods of time and across a wider range of species

55
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Examples of highly conserved sequences

  • tRNA

  • rRNA

    (Function is same for all species, rarely mutate)

56
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Hypothesis for highly conserved sequence examples

RESEARCH MORE, ADD MORE

57
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Define Cas 9

protein that cuts sequence

58
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Define CRISPR (clustered regularly interspaced short palindromic repeats)

sequence where the nitrogenous bases are palindromic (same sequence whether read backward or forward)

59
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Define CRISPR Cas 9 System

Bacteria’s method that protects itself from virus
ADD MORE, RESERACH MORE

60
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Explain how CRISPR Cas 9 System works

ADD MORE RESEARCH MORE

61
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State the use of the CRISPR Cas 9 system

  • method of finding and altering gene (search + replace)

  • Eliminating genetic disease