Theme 2D Flashcards

(37 cards)

1
Q

what are mutations

A

changes to nucleic acid sequence

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2
Q

are mutations inherited or not

A

both (inherited = germline, not = somatic)

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3
Q

what is the progenitor cell

A

where the mutation occurrs, all other daughter cells will express the mutation

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4
Q

what is base substitution

A

single nucleotide change

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5
Q

what is insertion

A

one or more base pairs added in sequence during DNA replication

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6
Q

what is deletion

A

one or more base pairs skipped during DNA replication

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7
Q

can mutations occur in introns, exons, telomeres, or centromeres

A

yes

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8
Q

what are spontaneous mutations

A

naturally occurring mutations, mainly caused by DNA replication errors

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9
Q

what are induced mutations caused by

A

mutagens that cause mutations at a much higher rate than spontaneous mutagens, they can replace or alter a base so it mispairs, or damage a base so it can’t pair correctly

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10
Q

what happens if a mutation occurs on the exon of a gene

A

there may be impacts on the encoded polypeptide

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11
Q

missense mutation

A

codon change causes change in an amino acid

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12
Q

nonsense mutation

A

sense codon change into a stop codon

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13
Q

silent mutation

A

codon change does no change amino acid due to degeneracy of the genetic code

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14
Q

frameshift mutation

A

insertion or deletion of a small number of base pairs that alter the reading frame

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15
Q

which type of mutation would have the most effect on the function of the polypeptide

A

depends on location

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16
Q

deletion (large scale chromosomal mutation)

17
Q

duplication/amplification

A

increasing dosage of genes

18
Q

translocation

A

interchanged genetic parts form non homologous chromosomes

19
Q

inversion

A

reversing orientation of a segment of the chromosome

20
Q

wild type allele

A

form of gene most found in nature or the standard laboratory stain of a model organism

21
Q

loss of function alleles (lof)

A

mutations that reduce/eliminate gene function/expression

22
Q

gain of function allele (gof)

A

mutations that enhance gene function/expression

23
Q

what is the cell cycle

A

an ordered set of processes by which one cell grows and divides into two daughter cells

24
Q

what happenes in G1 and G2

A

synthesis of proteins, RNA, metabolites, (not DNA)

25
what happens in S phase
DNA replication
26
what happens in M phase
mitosis
27
what are homologous chromosomes
maternal and paternal pair of the same chromosome
28
siste chromatids
identical copies of a chromosome, created during DNA replication and joined at the cenromere
29
prophase
(2n) duplicated chromosomes condense and evoke visible w/ sister chromatids, nuclear envelope breaks down, centrioles move apart and form mitotic spindles
30
metaphase
(2n) chromosomes are aligned at equator (metaphase plate) and are attached to opposite poles under tension
31
anaphase
(4n) sister chromatids and centromeres separate to the poles (8 chromosomes), centrosomes move further apart
32
telophase
(4n) chromosomes clustered at opposite pole and decondensing, cytoplasm begins to divide by furrowing (cytokinesis)
33
what is recombination
exchange of sections of non sister chromatids (in homologous pairs) by crossing over (during prophase I)
34
after mitosis I, what is the ploidy of each cell
haploid, but the chromosomes are replicated
35
are the sister chromatids split after meiosis I
no
36
when do centromeres and sister chromatids separate in meiosis
anaphase II
37
at the end of meiosis, how many daughter cells are there and what is their ploidy
4 non-identical haploid cells