Mutations Flashcards

1
Q

gene pool

A

the complete set of alleles present within a particular population

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2
Q

population

A

a group of individuals of the same species livng in the same location

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3
Q

species

A

a group of individuals that can interbreed to produce viable and fertile offspring

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4
Q

allele frequenicy

A

the proportion of certain alleles in a gene pool

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5
Q

what does allele frequency show

A

it can be used to depict the amount of genetic diversity at the individual, population and species level

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6
Q

genetic diversity

A

the variation in genetic makeup of alleles within a population

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7
Q

genotype

A

the genetic composition of an organism at a particular gene locus

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8
Q

phenotype

A

the physical or biochemical characteristics of an organism that are a result of gene expression ad the environment

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9
Q

what is the cause of phenotypic variation

A

genotypic variation which results in new alleles being introduced into the gene pool

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10
Q

mutagen

A

an agent that can cause mutations in DNA

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11
Q

mutation

A

a random and unpredictable permanent change in genetic information

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12
Q

how can the effects of mutations on the organism be described

A

advantageous, neutral or deleterious

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13
Q

deleterious

A

used to describe alleles that have an overall negative effect on individual fitness when expressed

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14
Q

what are the two types of mutations

A

spantaneous and induced

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15
Q

spantaneous mutations

A

not caused by any discernable reason

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16
Q

examples of spontaneous mutations

A

error in DNA repair, error in transcription, error in polymerisation, error in replication

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17
Q

induced mutations

A

caused by an environmental factor (mmutagen)

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18
Q

types of mutagens causing induced mutations

A

chemicals radition and UV light (ionising radiation)

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19
Q

examples of chemical mutagens

A

deaminating agents and base analogous

20
Q

for a mutation to be heritable

A

it must occur in an indivduals germline cells, if iit occurs in a somatic cell it is not heritable

21
Q

where are germline cells located

A

in the reproductive tissue

22
Q

what are the two types changes to chromosome number mutations

A

polyploidy and aneuploidy

23
Q

polyploidy

A

when an organism conatins more than 2 copies of each chromosome

24
Q

triploid

A

set of chromosomes in groups of three

25
aneuploidy
when there is an extra or missinh chromosome
26
what causes aneuploidy
non-disjunctiom during meiosis where homologous chromosomes fail to seperate
27
trisomy
containing an extra chromosome
28
monosomy
only having one particular copy of a chromosome
29
block mutations
chaanges to a large section of DNA or entire gene that involves the alteration of the structure of a chromosome
30
types of block mutations
deletion, duplication, inversion and translocation
31
deletion block mutations
removal of a section of DNA
32
duplication block mutations
replication of a section of DNA, lengthening the DNA/chromosome
33
inversion block mutations
reversal of section of DNA
34
translocation block mutations
switching of two sections of DNA on different chromosomes
35
point mutations
changes to a single nucleotide which can have an effect on the resulting protein
36
three types of point mutations
base substitution, base deletion and base insertion
37
three types of base subtituion mutations
silent, nonsense and missense
38
base insertions and deletions are both
frameshift mutations and therefore missense mutations
39
silent base subtitution
when a base is changed bbut the same amino acid is produced, can occur due to tthe degenerate nature of the genetic code
40
nonsense base subtitution
when the base change results in a stop codon, prematurely ends the translation of a genees mrna
41
missense base subtitution
changes to a bse that result in a different amino acid being produces, alters primary strcture/polypeptide chain
42
base deletion
type of frameshift mutation and missense, occurs when a base is randomly deleted from the mRNA strand
43
base insertion
type of frameshift mutation and missense, occurs when a base is randomly added to the mRNA strand
44
frameshift mutation
mutations that alter the base sequence of a gene so that it no longer makes sense, alters the reading frame of all following nucleotidees
45
reading frame
the order in which nucleotide triplets or codons are divided into consecutive, non-overlappiiing sequence