Mutations Flashcards

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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
Q

aneuploidy

A

when there is an extra or missinh chromosome

26
Q

what causes aneuploidy

A

non-disjunctiom during meiosis where homologous chromosomes fail to seperate

27
Q

trisomy

A

containing an extra chromosome

28
Q

monosomy

A

only having one particular copy of a chromosome

29
Q

block mutations

A

chaanges to a large section of DNA or entire gene that involves the alteration of the structure of a chromosome

30
Q

types of block mutations

A

deletion, duplication, inversion and translocation

31
Q

deletion block mutations

A

removal of a section of DNA

32
Q

duplication block mutations

A

replication of a section of DNA, lengthening the DNA/chromosome

33
Q

inversion block mutations

A

reversal of section of DNA

34
Q

translocation block mutations

A

switching of two sections of DNA on different chromosomes

35
Q

point mutations

A

changes to a single nucleotide which can have an effect on the resulting protein

36
Q

three types of point mutations

A

base substitution, base deletion and base insertion

37
Q

three types of base subtituion mutations

A

silent, nonsense and missense

38
Q

base insertions and deletions are both

A

frameshift mutations and therefore missense mutations

39
Q

silent base subtitution

A

when a base is changed bbut the same amino acid is produced, can occur due to tthe degenerate nature of the genetic code

40
Q

nonsense base subtitution

A

when the base change results in a stop codon, prematurely ends the translation of a genees mrna

41
Q

missense base subtitution

A

changes to a bse that result in a different amino acid being produces, alters primary strcture/polypeptide chain

42
Q

base deletion

A

type of frameshift mutation and missense, occurs when a base is randomly deleted from the mRNA strand

43
Q

base insertion

A

type of frameshift mutation and missense, occurs when a base is randomly added to the mRNA strand

44
Q

frameshift mutation

A

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
Q

reading frame

A

the order in which nucleotide triplets or codons are divided into consecutive, non-overlappiiing sequence