Quiz 2 Flashcards

1
Q

What are the three types of chromosomal mutations?

A

aneuploids
chromosome rearrangement
polyploids

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2
Q

aneuploids

A

alter the number of chromosomes

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3
Q

chromosome rearrangement

A

alter chromosome structure
duplication, deletion, inversion, translocation

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4
Q

polyploids

A

one or more additional sets of chromosomes

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5
Q

non-disjuction

A

failure of homologous chromosomes/sister chromatids to properly segregate

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6
Q

monosomy

A

loss of one member of homologous pair

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7
Q

trisomy

A

one additional member to homologous pair

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8
Q

non-disjunction in Meiosis I

A

all 4 gametes are abnormal
zygotes= 2n-1 and 2n+1

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9
Q

non-disjunction in meiosis II

A

2 normal gametes, and 2 abnormal
zygotes= 2n, 2n-1, 2n+1

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10
Q

Non-disjunction of autosomes

A

affects on large chromosomes= short lifespans
affects on small chromosomes= full lifespans

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11
Q

Mammalian Sex Chromosome

A

X and Y as pairing partners that normally segregate
imbalance in sex chromosome is less damaging than imbalance in autosomes

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12
Q

homogametic

A

XX
female

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13
Q

heterogametic

A

XY
males

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14
Q

SRY gene

A

sex-determining region on Y chromosome

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15
Q

Random X inactivation

A

only 1 X is in an active state
other Xs are inactive and condensed into Barr Bodies

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16
Q

Barr bodies

A

small darkly staining body in interphase cells of normal females

17
Q

Changing copy number of a gene can cause…

A

unbalanced gene dosage

18
Q

deletion

A

impact depends on what was deleted

19
Q

duplication

A

human segmental duplications make up 4% of human genome
gives opportunity for evolution of new proteins

20
Q

inversions

A

order of alleles changes, may lead to alteration in gene function/regulation

21
Q

paracentric inversion

A

does NOT include centromere

22
Q

pericentric inversion

A

includes the centromere

23
Q

Translocations

A

movement of genetic material between nonhomologous chromosomes
two types:
- reciprocal translocations
- robertsonian translocations

24
Q

reciprocal translocation

A

part of one chromosome exchanges with part of another chromosome

25
Robertsonian translocation
occurs between short arm of acrocentric chromosome and the long arm of another leads to chromosome getting lost
26
Translocations can _____ chromosome number
lower
27
Uniparental Disomy
attempt to correct aneuploidy both homologs passed from one parent
28
Why is it a problem to have both homologs passed from one parent?
- will be homozygous for any detrimental allele - imprinting: only one parental allele is expressed in some cells while the other is repressed