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
Q

Robertsonian translocation

A

occurs between short arm of acrocentric chromosome and the long arm of another
leads to chromosome getting lost

26
Q

Translocations can _____ chromosome number

A

lower

27
Q

Uniparental Disomy

A

attempt to correct aneuploidy
both homologs passed from one parent

28
Q

Why is it a problem to have both homologs passed from one parent?

A
  • will be homozygous for any detrimental allele
  • imprinting: only one parental allele is expressed in some cells while the other is repressed