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70 genetics > L17 - chromosomal mutations > Flashcards

L17 - chromosomal mutations Flashcards

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Biology 101 flashcards
1
Q

what is P

A

short arm of chromosome

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2
Q

what is q

A

long arm of chromosome

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3
Q

what separates the arms of chromosome

A

centromere

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4
Q

define telomere

A

repeated DNA sequence that protects end of chromosomes

TTAGGG

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5
Q

define sub-telomere

A

region between telomere and protein region of chromosome

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6
Q

role of telomerase?

A

DNA pol 2 cant synthesise end of lagging strand so telomerase does this

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7
Q

what do we call a chromosome where p&q arm are equal

A

metacentric

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8
Q 
put these in order of shrinking p arms 
acrocentric
metacentric 
telocentric 
submetacentric
A

metacentric
submetacentric
acrocentric
telocentric

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9
Q

what is the most common type of chromosome in humans

A

submetacentric

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10
Q

what is cytogenetics

A

study of chromosome variations that cause certain traits / illesses

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11
Q

does
heterochromatin
euchromatin
stain light or dark

A

heterochromatin - dark

euchromatin - light

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12
Q

what is karyotyping

A

process of pairing and ordering all of an organisms chromosomes

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13
Q

what is G banding

A

staining chromosomes with giesma dye after addition of trypsin

shows how condensed the chromosomes are at different times (eg stages of mitosis)

these bands can be used to identify regions of the chromosome

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14
Q

what is FISH

A

fluorescent in situ hybridization

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15
Q

uses of FISH

A
  • identify chromosomal aberrations

- chromosome gene mapping

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16
Q

explain process of FISH

what do we look for in FISH experiment?

A
  1. two fluorescent probes used, one control binds to DNA outside target region, one binds to target region
  • did probe bind
  • where did probe bind
  • if probe also bound to other unexpected regions
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17
Q

define constitutive chromosome abnormality

A

all tissues have same chromosomal abnormality

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18
Q

define acquired chromosome abnormality

A

only one organ / tissue has chromosome abnormality

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19
Q

define homogeneous chromosome abnormality

A

all cells carry abnormality

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20
Q

define mosaic chromosome abnormality

A

only some cells carry abnormality

21
Q

define numerical chromosome abnormality

A

abnormality what changes number of chromosomes (46)

22
Q

define structural chromosome abnormality

A

abnormalities include

missing/extra/changed genetic material within a chromosome

23
Q

list the types of numerical chromosome abnormalities

A

polyploidy

aneuploidy

24
Q

what is euploidy

A

normal no. and sets of chromosomes

25
Q

what is polyploidy

A

presence of more than 2 complete sets of chromosomes

eg normal 46, polyploidy 92

26
Q

what is aneuploidy

A

additional / missing individual chromosomes

27
Q

what are the two types of structural chromosome abnormalities

A

balanced rearrangements

unbalanced rearrangements

28
Q

describe unbalanced chromosome rearrangements

A

additional / missing genetic info on a chromosome

eg insertion/deletion

29
Q

describe balanced chromosomal rearrangements

A

no gain / loss of DNA

eg translocation, inversion

30
Q

what is
triploidy
tetraploidy

A

types of polyploidy
3 sets of chromosomes (69)
4 sets of chromosomes (92)

31
Q

what are the types of aneuploidy and how many C’s in each

A

monosomy - 45
trisomy - 47
nullisomy - 44

32
Q

what is nullisomy

A

when pair of homologous chromosomes missing

33
Q

when does non disjunction most frequently occur

A

anaphase 1

34
Q

describe translocation chromosome abnormality

A

portion of one C transferred to another

35
Q

describe reciprocal translocation chromosome abnormality

A

segments from two different C exchanged

36
Q

describe robertsonian translocation chromosome abnormality

A

entire C arm attached to another C arm at centromere

37
Q

what is sub-microscopic deletion

A

deletion of less that 5mb pairs

too small to be detected by microscope

38
Q

what is inversion chromosome abnormality

A

portion of chromosome breaks off, turns around then reattaches upside down
genetic info inverted

39
Q

what is paracentric inversion

A

an inversion that doesnt include centromere

40
Q

what is pericentric inversion

A

inversion that includes centromere

41
Q

describe insertion chromosome abnormality

A

part of a C deleted and inserted into another C

42
Q

what is ring chromosome abnormality

A

part of C breaks off and forms a ring

can occur with / without loss of genetic info

43
Q

what is isochromosome chromosome abnormality

A

where the p arms attach to eachother and q arms attach to eachother instead to pq

44
Q

what is NAHR and when does it occur

A

non allelic homologous recomb

between similar sequences of DNA that aren’t alleles

45
Q

what is uniparental disomy

A

when 2 copies of a C come from one parent

46
Q

what are trinucleotide repeats

A

DNA segment that contains repeat of 3 nucleotides (eg CAGCAGCAGCAG) if this is passed to offspring the no. of repeats may differ

47
Q

define synteny

A

genes occurring on same chromosome

48
Q

what is trisomy 21

A

down syndrome

70 genetics (19 decks)

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