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Biotechnology Mid Term > CH4 | Mutations and Genetic Variation > Flashcards

CH4 | Mutations and Genetic Variation Flashcards

1
Q

Mutations are changes in DNA that can result in…

A

permanent alteration to the sequence of nucleotides.

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2
Q

Somatic mutations occur in…

A

non-reproductive cells.

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3
Q

Somatic mutations affect…

A

only a patch of tissue.

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4
Q

Somatic mutations are inherited by…

A

None of the gametes carry this mutation

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5
Q

Germline mutations occur in…

A

cells that give rise to gametes.

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6
Q

Germline mutations affect…

A

the entire organism.

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7
Q

Germline mutations are inherited by…

A

half of the gametes that carry this mutation.

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8
Q

Inherited mutations are passed down from…

A

parents to offspring.

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9
Q

Inherited mutations can be present in…

A

germline cells.

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10
Q

Spontaneous mutations are caused by errors in…

A

cellular mechanisms.

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11
Q

What are some mechanisms that spontaneous mutation can regulate?

A

chromosome segregation, recombination, DNA replication, DNA repair.

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12
Q

Spontaneous chemical damage to DNA can cause…

A

De-novo mutations.

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13
Q

Induced mutations are caused by exposure to…

A

environmental factors/mutagens.

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14
Q

Examples of radiation that cause mutations are…

A

UV (sunlight), X-rays.

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15
Q

Examples of chemicals that cause mutations are…

A

carcinogens (cigarettes), processed food additives.

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16
Q

Examples of infectious agents that cause mutations are…

A

some viruses (e.g., HPV), and bacteria (e.g., Helicobacter).

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17
Q

Chromosomal mutations change…

A

chromosome structure.

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18
Q

In chromosomal mutations, the total amount of genetic information can…

A

change or remain the same but be rearranged.

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19
Q

Deletion, duplication, and insertion are types of chromosomal mutations in which…

A

the total amount of genetic material changes.

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20
Q

Inversion and translocation are types of chromosomal mutations in which…

A

the genetic material is rearranged

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21
Q

Point mutations change…

A

a single nucleotide.

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22
Q

Three types of point mutations are…

A

silent, missense, nonsense.

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23
Q

Deletions involve the loss of…

A

one or more nucleotides from a segment of DNA.

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24
Q

Microdeletions are…

A

small deletions, ranging from a single nucleotide to multiple nucleotides.

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25
Q

Macrodeletions are…

A

deletions of large parts of the chromosome.

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26
Q

Insertions involve the addition of…

A

one or more nucleotides into a segment of DNA.

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27
Q

Microinsertions are…

A

small insertions of genetic material.

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28
Q

Macroinsertions are…

A

large insertions of genetic material.

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29
Q

Indels are…

A

frameshift mutations that affect the reading frame of a gene.

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30
Q

Frameshift mutations result in…

A

large numbers of altered amino acids.

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31
Q

Inversions occur when…

A

a chromosomal segment breaks off and reattaches in reverse orientation.

32
Q

In an inversion, DNA may…

A

or may not be lost in the process.

33
Q

Paracentric inversion is when…

A

there is an inversion in a chromosome within the long (q) arm.

34
Q

Translocations occur when…

A

a chromosome breaks and the fragmented pieces re-attach to different chromosomes.

35
Q

How many chromosomes are involved in a translocation?

A

typically two.

36
Q

Point mutations occur when…

A

a single base pair is added, deleted, or changed.

37
Q

Most point mutations are…

A

benign.

38
Q

Point mutations can change…

A

gene expression or alter encoded proteins.

39
Q

Three types of point mutations are…

A

silent, missense, and nonsense.

40
Q

A silent mutation does not affect…

A

the sequence of amino acids in the gene’s protein.

41
Q

Missense mutations alter the genetic code to produce…

A

a different amino acid than the usual one at that position.

42
Q

Nonsense mutations cause…

A

a premature stop codon.

43
Q

The presence of a premature stop codon results in…

A

a shortened protein that is likely non-functional.

44
Q

Harmful mutations can cause…

A

loss of function or gain of function.

45
Q

Beneficial mutations can provide…

A

protection.

46
Q

Neutral mutations can contribute to…

A

genetic diversity.

47
Q

Sickle cell anemia is a mutation that provides an advantage that allows individuals to…

A

have a greater chance of surviving Malaria.

48
Q

The great majority of mutations are…

A

neutral (no effect on phenotype).

49
Q

There has been an increasing trend to use the term… instead of mutation

A

DNA variant

50
Q

DNA variants associated with an altered phenotype (causing disease) are described as…

A

mutations.

51
Q

Think of mutation as a process that creates genetic variation IF…

A

a disease phenotype is NOT a result.

52
Q

SNPs are the most common type of…

A

genetic variation among people.

53
Q

SNPs involve a change in…

A

a single nucleotide base.

54
Q

SNPs occur approximately every…

A

300 nucleotides.

55
Q

SNPs account for about… of all human genetic variation

A

90%

56
Q

Most SNPs are found in… but those in coding regions can…

A

non-coding regions, affect gene function.

57
Q

SNPs can be linked to susceptibility to diseases such as…

A

diabetes, cancer, cardiovascular disorders.

58
Q

SNPs can affect individual responses to drugs by…

A

altering drug metabolism enzymes, transporters, or targets.

59
Q

CNVs are segments of DNA that vary in…

A

copy number between individuals.

60
Q

CNVs involve duplications or deletions of genomic regions ranging from…

A

1,000 base pairs to several million base pairs.

61
Q

CNVs occur due to errors in…

A

DNA replication, recombination, or repair mechanisms.

62
Q

Structural variations can lead to… (duplications) or… (deletions) of genes

A

extra copies, missing copies

63
Q

Gene Dosage Effect (CNVs) are changes in the number of gene copies that can…

A

increase or decrease gene expression.

64
Q

Phenotypic Variation (CNVs) can contribute to…

A

differences in traits and disease susceptibility.

65
Q

CNVs have been linked to conditions such as…

A

cancer, neurodevelopmental disorders, and immune system diseases.

66
Q

Amplification of the HER2 gene can lead to…

A

overexpression of the HER2 protein (influences treatment in breast cancer).

67
Q

CNVs affect drug metabolism by…

A

altering the copy number of genes encoding drug-metabolizing enzymes.

68
Q

CNVs influence individual responses to medications, which is important for…

A

personalized medicine.

69
Q

Pharmacogenomics is the study of…

A

how genes affect a person’s response to drugs.

70
Q

Pharmacogenomics involves tailoring drug therapy based on… and predicting…

A

genetic makeup, adverse drug reactions.

71
Q

Personalized medicine involves creating treatment plans based on…

A

individual genetic profiles.

72
Q

Personalized medicine leads to…

A

increased drug efficacy and reduced side effects.

73
Q

Drug development involves designing drugs that…

A

specifically target mutated proteins in diseases.

74
Q

Biotechnology applications include… and…

A

gene therapy to correct genetic defects, use of recombinant DNA technology to produce therapeutic proteins.

75
Q

Biotechnological tools are used to…

A

identify and characterize genetic mutations.

76
Q

Pharmaceutical science focuses on…

A

designing efficient potential therapeutics.

Biotechnology Mid Term (9 decks)

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