Cytogenetics Oct12 M3 Flashcards

1
Q

morphologic groups of chromosomes

A

metacentric, submetacentric, acrocentric

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2
Q

molecule holding chromosomes until anaphase

A

cohesins

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3
Q

name of structure on chromosomes that the mitotic spindle attaches to

A

kinetochores

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4
Q

important proteins in kinetochore

A

CENP proteins

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5
Q

2 important chromosome regions

A

centromere, telomere

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6
Q

telomere function and how

A

protect DNA from ligation and degradation. form loop. tell cell not a broken piece of DNA

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7
Q

how telomere changes with time

A

shortens with cell divisions

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8
Q

name of the phases in meiosis 1

A

leptotene, zygotene, early pachytene, late pachytene, diplotene, diakinesis

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9
Q

when crossing over occurs at meiosis 1

A

pachytene stage (early and late)

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10
Q

name of crossing over structure inmeiosis

A

chiasma

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11
Q

non-disjunction 3 types

A

2 homologous chromosomes

2 sister chromatids

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12
Q

how mosaicism can happen from non disjunction

A

if non disjunction at mitosis

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13
Q

constitutional mosaicism def

A

at least 2 cell lines with diff chromosomal complements in a fetoplacental unit derived from a single zygote

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14
Q

chimerism def

A

diff cell lines in diff zygotes

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15
Q

common disease where mosaicism taking place

A

cancer

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16
Q

3 cytogenetic techniques

A
  • chromosome banding
  • FISH
  • chromosomal microarray
17
Q

how to obtain metaphase chromosomes

A

fix cells at metaphase and put them on slide

18
Q

chromosome banding def

A

each chromosome has characteristic light and dark bands

19
Q

staining used in chromosome banding

A

Giemsa

20
Q

Robertsonian translocation def

A

fusion of 2 acrocentric chromosomes

21
Q

Robertsonian transloc consequence on carrier and progeny

A
  • no conseq on carrier bc normal chrom number

- progeny might get extra copy of a chromosome

22
Q

balanced structural rearrangements of chromosome, give 3

A

reciprocal translocation, inversion, Robertsonian transloc

23
Q

unbalanced rearrangements conseq

A

affect dosage sensitive genes

24
Q

banding and karyotyping: good and bad

A

good: can see balanced and unbalanced rearrangements
bad: limit to resolution

25
Q

FISH steps

A

denature DNA, hybridize with labelled probe, post-hybridization wash, vew signal on fluorescent microscope

26
Q

FISH good and bad

A

god: high resolution
bad: only see genome complementary to the probe

27
Q

microarray concept

A

many FISH at once.patient DNA one colour, test DNA other colour. if mix sequences and colour is in between, shows equal number of genes

28
Q

microarray good and bad

A

good: very high resolution
bad: balanced rearrangements can’t be seen

29
Q

what techniques used to diagnose down syndrome

A

all three

30
Q

what banding allows to see in down syndrome

A

if Robertsonian chromosome (extra copy of chrom 21 on chrom 14)

31
Q

reciprocal translocation carriers

A

if reciprocal chromatids don’t segregate together, get + copies and deletions too

32
Q

reciprocal translocation between chrom 9 and 22: associated disease

A

chronic myelogenous leukemia

33
Q

CML cause of problem

A

BCR and ABL genes rearrangement: constitutively active protein

34
Q

CML name of anormal chromosome 22 (with not much left)

A

Philadelphia chromosome

35
Q

treatment for CML

A

TKI (Imatinib, Gleevec)