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Human biology > Mutations 2 > Flashcards

Mutations 2 Flashcards

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1
Q
A
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2
Q

What is evolution?

A

The change in characteristics of a species over time

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3
Q

What definition of genotype?

A

The genetic make up of an organism

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4
Q

what definition of phenotypes ?

A

The observed traits

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5
Q

what definition of population?

A

a group of organisms of the same species living together in a particular place

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6
Q

what definition of gene pool?

A

The sum of all the alleles in a given population

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7
Q

what definition of allele frequency ?

A

how common an allele is in a given population

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8
Q

what definition of mutation ?

A

change in the DNA sequence of an organism

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9
Q

what definition of gene mutation ?

A

change in a single gene so that the trait normally produced by that gene is changed or destroyed

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10
Q

what definition of chromosomal mutation ?

A

All or part of a chromosome is affected

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11
Q

what is the cause of a mutation?

A

Mutagens such as mustard gas, radioactive waste

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12
Q

what are the types of mutations?

A

Induced mutations - mustard gas
Spontaneous mutation - random errors

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13
Q

what categories can mutations be separated into?

A
  • induced/spontaneous
  • whether they are hereditary
  • their effects on proteins
    -extent of mutation
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14
Q

what are heritable mutation ?

A
  • Mutation that occur in somatic cell cannot be passed on eg. Cancer
  • Germline mutation that occur in gametes can be passed on eg. PKU
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15
Q

what is the extent of the mutation?

A
  • The amount of DNA affected
  • whether it is a gene or chromosomal mutation
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16
Q

what is the effect of mutations?

A

changes in nucleotide may cause point or frameshift mutation

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17
Q

what are point mutation?

A
  • Missense
  • Nonsense
  • Neutral
  • Silent
  • Substitution
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18
Q

what is a missense mutation?

A

causes a change in amino acid

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19
Q

what is a nonsense mutation?

A

change in the base sequence to code for a stop codon

20
Q

what is a neutral mutation?

A

causes a change in the amino acid but the structure of the protein ins’t changed enough to alter function

21
Q

what is a silent mutation?

A
  • do not cause any change in the amino acid or the protein
22
Q

what is a substitution mutation?

A

an existing nucleotide is replaced with another one

23
Q

what are frameshift mutation?

A

-inserted
-deletion

24
Q

what is an insertion mutation?

A
  • a new nucleotide is added
25
Q

what is a deletion mutation?

A
  • a nucleotide is removed from the DNA strand
26
Q

what are chromosomal mutations?

A
  • a mutation involving long segments of DNA or chromosome
    -can increase or decrease number of chromosomes or chromosomes sets
27
Q

what are the causes of chromosomal mutations ?

A

-error in mitosis, meiosis, fertilisation
-mutagens

28
Q

what are some examples chromosomal mutations?

A
  • Duplication
  • Deletion
  • Inversion
  • Translocation
  • Non-disjunction
29
Q

what is duplication ?

A

a section of chromosome occurs twice

30
Q

what is deletion ?

A

a section of DNA is removed

31
Q

what is inversion?

A

a break in a chromosome occurs and then is reattached the wrong way

32
Q

what is translocation?

A

part of a chromosome breaks off and reattaches to the wrong chromosome

33
Q

what is non-disjunction?

A

occurs during meiosis
chromosomes don’t seperate properly during anaphase resulting in daughter cells with the incorrect number of chromosome called aneuploidy

34
Q

how is variation caused?

A

-Random assortment
-Crossing over
-Non-disjunction
-Random fertilisation
-Mutation

35
Q

what is random genetic drift?

A

a non-directional variation in allele frequency that occurs in a small population

36
Q

what is the bottleneck effect?

A

when a population is sharply reduced

37
Q

what is the founder effect?

A

when a small group moves away from its homeland

38
Q

how is gene flow created?

A

the movement of alleles from one population to another through migration

39
Q

what do barriers do?

A

-prevent inbreeding
-creates different selection pressure
-development of different gene pools

40
Q

what are the types of barriers?

A
  • Geographical barriers
  • Sociocultural barriers
41
Q

what is the population frequency of Tay – Sachs disease?

A

Jewish decent from Eastern Europe
Sociocultural barrier
Protection from TB

42
Q

what is the population frequency of Thalassaemia?

A

Mediterranean coast and South East Asia
Sociocultural barrier
Protection from malaria

43
Q

what is the population frequency of Sickle – cell anaemia?

A

Black Africans
- Protection from malaria

44
Q

what is the process of natural selection ?

A
  1. there is variation within a species
  2. there are more offspring produced than can survive to adulthood
  3. there is a struggle for existence
  4. individuals with favourable characteristics survive and reproduce
  5. favourable characteristics are passed on to offspring
  6. proportion of favourable alleles gradually increase
45
Q

what is Darwin’s theory of natural selection based on?

A

-variation
-birth rate
-natures balance

Human biology (15 decks)

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