lecture 21 Flashcards

chromosomal rearrangements

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1
Q

what are the two types of BALANCED chromosomal rearrangements?

A

inversions and translocations

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2
Q

what is a balanced chromosomal rearrangement?

A

there is a change in the chromosome gene order but no duplication or deletion of DNA in the chromosome

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3
Q

what type of chromosomal rearrangement involves an internal segment of a chromosome being broken twice(DSB), and rejoined?

A

inversion

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4
Q

what type of chromosomal rearrangement involves fragments of two non-homologous chromosomes trading places?

A

translocation

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5
Q

how do oncogenes form in an inversion?

A

if the break occurs in the middle of two genes, the resulting gene fusion once the ends have been flipped can be an oncogene(cancerous)

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6
Q

what is it called when the centromere is OUTSIDE of the inversion?

A

paracentric

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7
Q

what is it called when the centromere is INCLUDED in the inversion?

A

pericentric

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8
Q

in order for alleles to line up after an inversion has taken place, what must form?

A

an inversion loop

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9
Q

what is the result of an inversion loop?

A

crossing-over, resulting in decreased recombination

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10
Q

in paracentric heterozygote inversions, what is the name of the fragment that is lost?

A

acentric fragment

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11
Q

what is the name of the chromosome part that connects the two chromosomes in a paracentric heterozygote inversion?

A

paracentric bridge

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12
Q

what is the RF for a paracentric heterozygote inversion?

A

0% because the recombinants are all lethals because the paracentric bridge gets cut in half during telophase I resulting in half the genetic material in the gametes

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13
Q

what is the RF is pericentric heterozygote inversions?

A

0% because only the parental gametes survive because the recombinants have a genetic imbalance as they have double some genes and lack other genes

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14
Q

what is it called when two non‐homologous chromosomes mutate by exchanging parts?

A

translocation

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15
Q

what type of structure forms in prophase I in a reciprocal translocation?

A

cross-like structure of two chromosomes

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16
Q

what are the results of alternate segregation in reciprocal translocation?

A

viable gametes with reduced fertility

17
Q

what are the results of adjacent-1 segregation in reciprocal translocation?

A

non-viable gametes

18
Q

what are the results of adjacent-2 segregation in reciprocal translocation?

A

non-viable gametes, doesn’t occur basically at all

19
Q

what are the two types of unbalanced chromosomal rearrangements?

A

deletions and duplications

20
Q

what is the double of genetic information on one part of a chromosome called?

A

duplication

21
Q

what is an intragenic deletion?

A

a small deletion WITHIN a gene that inactivates it

22
Q

how many chromosome breaks occur in an intragenic deletion?

A

two

23
Q

how is an intragenic deletion different than a single nucleotide mutation?

A

a single nucleotide mutation can be repaired

24
Q

what is multigenic deletion?

A

deletion on a chromosome resulting in the loss of multiple genes

25
Q

what is it called when alleles for recessive traits seem to show dominance over normal phenotypes?

A

pseudodominance

26
Q

how does pseudodominance occur?

A

if there is a deletion, there is only one allele that can be expressed, if it is recessive it may appear that it is masking the dominant allele that was actually deleted

27
Q

what happens in a tandem duplication?

A

the genetic material for a gene(s) is implanted into a chromosome next to where that gene(s) already resides

28
Q

what happens in an insertional duplication?

A

the genetic material for a gene(s) is implanted at some point in the chromosome that is not near where that gene(s) already resides

29
Q

what is it called when two non-homologous chromosomes mutate only by the exchange of genetic information going from one to the other?

A

non-reciprocal translocation

30
Q

what are the results of a non-reciprocal translocation?

A

an insertion in one chromosome and a deletion in the other