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HBIO > MUTATION + GENE POOLS > Flashcards

MUTATION + GENE POOLS Flashcards

1
Q

Evolution

A

gradual change in characteristics of a species over time/multiple generations
permanent change in population’s gene pool from one generation to next

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2
Q

Phenotype

A

observable characteristics due to genotype

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3
Q

Genotypes

A

combination of alleles for a gene

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4
Q

Population

A

group of organisms of same species living together in particular place at particular time

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5
Q

Gene pool

A

sum of all alleles in a given population

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6
Q

Allele (gene) frequencies

A

how often an allele of a gene occurs in the gene pool for that population

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7
Q

Mutation

A

permanent change in a gene/chromosome of a cell leads to organism’s new characteristics
can affect body cells + reproductive cells
effects occur during DNA replication
beneficial, neutral, deleterious

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8
Q

Types of mutations

A

Gene
Chromosomal

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9
Q

Gene mutations

A

changes in single gene which codes for a particular protein, so that its traits are changed/destroyed
cause frameshift mutations
usually advantageous

eg: albinism

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10
Q

Chromosomal mutation

A

all/part of chromosome affected
change in structure of a chromosome/ total no. chromosomes
miscarriages in early pregnancy
usually disadvantageous

eg: Down syndrome- trisomy 21

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11
Q

Species

A

basic unit of biological classification
group of individuals that share many characteristics + able to interbreed under natural conditions to produce fertile offspring

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12
Q

Ways gene frequencies alter as result of mechanisms of evolution

A

mutations
differing selection pressures
random genetic drift- founder effect
change in gene flow between adjoining groups

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13
Q

Types of chromosome mutations

A

deletion
duplication
inversion
translocation
non-disjunction

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14
Q

Somatic mutation

A

mutation in body cells
only affect characteristics of individual who has the mutation- not passed to future generations

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15
Q

Germline mutations

A

affect germline cells
change in sperm/ova hereditary material
can be passed to offspring
don’t affect the individual who carries it
if advantageous variation in structure produced, mutation will be incorporated into DNA of every cell in offspring’s body

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16
Q

Archromatopsia

A

total colour blindness
inherited form

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17
Q

Albinism

A

inability to produce pigment in hair/skin/eyes
inherited

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18
Q

Anaemia

A

reduced amount of haemoglobin in blood/
reduced no. RBC’s

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19
Q

Aneuploidy

A

change in chromosome no.
result of non-disjunction

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20
Q

Bottleneck effect

A

extreme genetic drift effect
when size of population severely reduced due to sudden event
allele frequency of survivors may not reflect that of original population

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21
Q

Cri-du-chat syndrome

A

rare genetic disorder
missing part of chromosome 5

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22
Q

Cystic fibrosis

A

disorder controlled by recessive allele carried on autosome
incurable
detected during foetal development

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23
Q

Down syndrome

A

AKA trisomy 21
genetic disorder
extra copy of chromosome 21

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24
Q

Duchenne muscular dystrophy

A

genetic disease
wasting of leg muscles + then arms, shoulders + chest

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25
Q

Frameshift

A

caused by gene mutation
base insertion/deletion/duplication that results in change in way that sequence is read

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26
Q

Gene flow

A

transfer of alleles from one population to another through migration of individual

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27
Q

Geographical barrier

A

feature of landscape
prevents populations from interbreeding

eg: oceans, mountain ranges, large lake systems, deserts, + expansive ice sheets

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28
Q

Heterozygote advantage

A

where heterozygous genotype has higher chance of survival than either homozygous genotype

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29
Q

Induced mutation

A

caused by mutagenic agent

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30
Q

Klinefelter syndrome

A

genetic disorder
results from inheritance of 2 X chromosomes + 1 Y chromosome

XX + Y

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31
Q

Lethal recessive

A

homozygous recessive allele that results in death of embryo/foetus/child

eg: Tay-Sachs disease

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32
Q

Migration

A

movement of people from one area to another with intention of settling permanently

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33
Q

Missense mutation

A

due to point mutation
causes change in an amino acid
results in different protein produced

34
Q

Monosomy

A

individual has only 1 copy of chromosome

35
Q

Mutagenic agent

A

AKA mutagen
environmental agent that increases rate of mutation

eg: mustard gas, formaldehyde, sulfur dioxide, some antibiotics, + all kinds of ionising radiation (UV, X-rays, cosmic, radioactive waste, atomic/nuclear explosion fallout)

36
Q

Mutant

A

organism with characteristic resulting from mutation

37
Q

Natural selection

A

Charles Darwin
process by which species becomes better adapted to environment
individuals with favourable characteristics have a survival advantage + pass characteristics on to subsequent generations

38
Q

Neutral mutation

A

causes change in amino acid
no overall change in protein

39
Q

Nonsense mutation

A

due to point mutation
results in STOP codon
produces shortened peptide chain

40
Q

Partial monosomy

A

part of chromosome pair missing

41
Q

Patau syndrome

A

genetic disorder
extra copy of chromosome 13

42
Q

Phenylketonuria

A

PKU
inherited disease
damage to growing brain + extreme intellectual deficiency, epileptic seizure tendency, + failure to produce normal skin pigmentation

43
Q

Point mutation

A

type of gene mutation
change in just 1 of nitrogen bases in a DNA molecule
can alter/not alter/stop production of proteins
causes missense, nonsense, or silent mutations

eg: Duchenne muscular dystrophy

44
Q

Selective agent

A

factor that causes death of organisms with certain characteristics
no effect on individuals without the characteristics

45
Q

Sickle-cell anaemia

A

inherited disease
from inheritance of 2 recessive alleles for sickle-cell anaemia
causes early death

46
Q

Silent mutation

A

due to point mutation
does not change sequence of amino acids

47
Q

Sociocultural barrier

A

barrier to interbreeding due to social/cultural factors
language/religion/economic status/social class

48
Q

Special creation

A

belief that God/ a god created all species

49
Q

Speciation

A

process of new species developing
allele frequency changes until population become so different that groups are no longer able to interbreed

50
Q

Spontaneous mutation

A

occurs due to an error in a natural biological process

51
Q

Struggle for existence

A

principle where no. organisms is greater than resources in environment can support
competition between organisms for the resources

52
Q

Survival of the fittest

A

principle where organisms with favourable characteristics survive, + organisms with unfavourable characteristics die before they have a chance to reproduce

53
Q

Turner syndrome

A

genetic disorder
results from inheritance of 1 X chromosome + no others

X

54
Q

Variation

A

differences that exist between individuals/populations of a species

55
Q

Why are X-rays avoided in early pregnancy?

A

if woman has large X-ray doses within first 3 months, child may be born with intellectual disability/skeletal malformations/microcephaly (small head)

56
Q

Amino acid

A

built using group of 3 bases- codon

57
Q

Causes of mutations

A

induced mutations
spontaneous

58
Q

Effects of mutations

A

Missense
Nonsense
Neutral
Silent

59
Q

Mutations of nuceotides

A

Insertion
Substitution
Deletion

60
Q

Gene mutation examples

A

Duchenne muscular dystrophy
Cystic fibrosis

61
Q

Monosomy chromosomal mutation examples

A

Cri-du-chat syndrome
Turner syndrome

62
Q

Trisomy chromosomal mutation examples

A

Trisomy-21
Patau syndrome
Klinefelter syndrome

63
Q

Rhesus factor

A

antigen found on RBC surface

64
Q

Natural selection observations

A

Variation
Birth rate
Nature’s balance

65
Q

Natural selection theory summary

A

Variation > struggle for existence (competition) > survival of fittest > natural selection > favourable characteristics in gene pool inc. + adaptation

66
Q

Natural selection examples

A

body stature
sickle-cell anaemia
tay-sachs disease
thalassemia

67
Q

Genetic drift

A

AKA Sewall Wright effect
random + non-directional change in gene frequency between generations- due to chance
usually in small populations
traits lost/established
eg: Amish

68
Q

Founder effect

A

when small group moves away from homeland to totally new area + establishes population which later expands
can have dif. allele frequency from original population + dec. genetic variation

69
Q

Types of genetic drift effects

A

bottleneck
founder

70
Q

Steps of speciation

A

variation
isolation
selection
speciation

71
Q

Isolation

A

populations of same species isolated without gene flow

72
Q

Allele

A

alternate forms of a gene
2 per gene
found on homologous chromosome pairs
alleles found at gene loci

73
Q

Gene

A

code for certain proteins

74
Q

Non-disjunction

A

at anaphase 1 or 2

75
Q

Codominant

A

eg: pink

76
Q

Incomplete dominance

A

eg: white + red spots

77
Q

What causes changes in gene frequency

A

mutations
natural selection
genetic drift
founder effect
migration
barriers
gene flow

78
Q

Chromosome inversion

A

segment breaks off, flips, + reattaches

79
Q

Gene mutation types

A

point mutations/addition/deletion/duplication of 1 or more nucleotide

80
Q

What diseases occur due to mutations at DNA replication

A

cystic fibrosis
cancers
albinism

HBIO (11 decks)

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