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
Q

loss of both members of a homologous pair of chromosmes

A

nullisomy, 2n-2

26
Q

loss of a single chromosome

A

monosomy, 2n-1

27
Q

gain of a single chromosome

A

2n+1, trisomy

28
Q

gainof two homologous chromosomes

A

tetrasony, 2n+_2

29
Q

if a parent who is a 14-21 translocation carrier mates with a normal person, what is teh pheinotypes of offspring

A

2/3 will have normal phenotype including translocation carrier
1/3 will have down syndrome, others die

30
Q

explain aneuploidy and maternal age

A

older mothers are more likely to give birth toi a child with down syndrome

31
Q

significance of polyploidy

A

increase in cell size
larger plant attributes
Evolution
many crop plantys are polyploid

32
Q

how many nuclei does skeletal muscle have

A

multiple nuclei

33
Q

when do myoblasts fuse

A

as muscle cells form

34
Q

what is disjunction

A

paired homologs fail to disjoin during segregation