mutations Flashcards

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1
Q

what is a mutation

A

is a permanent change to the sequence of DNA bases, and occurs during cell replication

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2
Q

point mutation

A

a change in nucleotide base at a single point on a gene which changes the mRNA codon sequence and the primary structure of the protein

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3
Q

Deletion point mutation

A

a nucleotide base has been deleted from gene

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4
Q

insertion point mutation

A

a nucelotide base has been inserted

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5
Q

substitution

A

a nucleotide has been substituted for another

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6
Q

inversion

A

inversion of adjacent nuceleotides

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7
Q

missense gene mutation

A

results in a different amino acid being coded for which alters primary structure

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8
Q

samesense gene mutation

A

results in the same amino acid being coded for which does not change primary structure (silent)

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9
Q

nonsense gene mutation

A

results in changing to a stop codon, prevents protein synthesis and results in a non-functioning protein

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10
Q

frameshift gene mutation

A

is the deletion or insertion of nucleotide bases in a DNA sequence where all of the codons are affected, preventing the protein from folding into its structure

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11
Q

chromosome mutations

A

a chromosome mutation is a change in the number or structure of chromosomes in a cell, caused by errors in cell division, affecting the whole chromosome

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12
Q

translocation chromosome mutation

A

genes are exchanged between non-homologous chromosomes (not a pair), occurs furing meiosis

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13
Q

duplication chromosome mutation

A

a gene may be replicated more than once creating extra copies of a gene on a chromosome

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14
Q

deletion chromosome mutation

A

a gene can be removed at any location on a chromosome causing a loss of genetic material

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15
Q

inversion chromosome mutation

A

a section of a chromosome breaks off, inverts and rejoins the chromosome

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16
Q

aneuploidy

A

a chromosome mutation that causes individuals to have an abnormal number of chromosomes

17
Q

spontaneous mutations

A

the normal rate of mutation in an organism which is caused by spontaneous mutations in DNA replication

18
Q

mutagens

A

enviromental factos that increase the rate of mutations

19
Q

examples of mutagens

A

ionising raditon, non-ionizing radiation, mutagenic chemicals, virus

20
Q

somatic mutation

A

includes all body cells but not germ cells and does not affect offspring, is often localized in one organ or tissue type

21
Q

germinal mutation

A

occurs in the germ cells in the reproductive organs, mutation is inherited so it can be found in every cell of the offsprings body

22
Q

somatic mutations and cancer

A

somatic mutations in proto-oncogenes cause cancer tumours

23
Q
A