chromosome variation Flashcards

1
Q

aneuploidy

A

2n+1 =7

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2
Q

Types of rearrangement

A

duplication
Deletion
Inversion
Translocation

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3
Q

dupliocation arises from — between synapsed chromosomes in meoisis

A

unequal crossing over

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4
Q

effect of duplication

A

increased gene dosage
nw genes with distinct gene products

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5
Q

effect of deletion

A

pseudominance
imbalance in gene product

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6
Q

paracentric means

A

inversions do not include centromere

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7
Q

pericentric means

A

inversion includes centromere

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8
Q

effect of inversion in individual homozygous

A

no problems arise in meoisis

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9
Q

effect of imversion in individuals heterozygous

A

homologous sequences align only if two chromosomes from an inversion loop
abnormal gametes form if recombination is in inverted regions

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10
Q

a single crossover within paracentric inversion leads to

A

abnormal recombination gametes

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11
Q

effect single crossover in paracentric inversion

A

suppress recombination in inverted region

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12
Q

types of translocations

A
  1. Non reciprocal
    reciprocal
    robertsonian translocation
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13
Q

example of disease causing reciprocal translocation

A

burkitt lymphoma

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14
Q

what is burkitt lymphoma

A

cancer of B cells, which are lymphocytes making antibodies

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15
Q

c-MYC stimulates

A

cell division

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16
Q

translocation of B-cells does what

A

puts c-MYC behind immunoglobin gene leading to high expression of c-MYC

17
Q

high expression of c-MYC leads to

A

cell division out of control

18
Q

describe robertsonian translocation

A

when the short arm of one acrocentric centrosome is exchanged for the long arm of another
leading to a large metacentric chromosmes
and a fragment taht often fails to segegrate and is losy

19
Q

causes of aneuploidy

A

robertsonian translocation
deletion of centromere during mitosis and meiosis
nondisjunction during meiosis and mitosis

20
Q

trisomy 21 results in

A

down syndrome

21
Q

which down syndrome has 75% random nondisjunction in egg formartion

A

primary down syndrome

22
Q

which down syndrome is robertsonian translocation between chromosome 14 and 21

A

familial down syndrome

23
Q

when does nondisjunction occur

A

meiosis I or II, mitosis if sister chromatids fails to seperate

24
Q

non disjunction give rise to

A

variation in chromosmal number

25
loss of both members of a homologous pair of chromosmes
nullisomy, 2n-2
26
loss of a single chromosome
monosomy, 2n-1
27
gain of a single chromosome
2n+1, trisomy
28
gainof two homologous chromosomes
tetrasony, 2n+_2
29
if a parent who is a 14-21 translocation carrier mates with a normal person, what is teh pheinotypes of offspring
2/3 will have normal phenotype including translocation carrier 1/3 will have down syndrome, others die
30
explain aneuploidy and maternal age
older mothers are more likely to give birth toi a child with down syndrome
31
significance of polyploidy
increase in cell size larger plant attributes Evolution many crop plantys are polyploid
32
how many nuclei does skeletal muscle have
multiple nuclei
33
when do myoblasts fuse
as muscle cells form
34
what is disjunction
paired homologs fail to disjoin during segregation