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Principles Of Disease Year 1 > Chromosomes > Flashcards

Chromosomes Flashcards

1
Q

Where is the heterochromatin found?

A

By the centromere and telomeres

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2
Q

What are telomeres?

A

The ends of chromosomes have no space for the RNA primers to attach to hence doesn’t get replicated.
Therefore telomeres shorten throughout our lives
Must not be inappropriately degraded or repaired

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3
Q

What is the centromere?

A

Holds sister chromatids together

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4
Q

What is heterochromatin

A

Loped around histones and are inactive

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5
Q

What direction does DNA polymerase work ?

A

3 to 5 prime

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6
Q

What stitches Okazaki fragments?

A

DNA ligase

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7
Q

DNA polymerase can synthesis dna de novo.
True or false

A

False it needs an RNA primer

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8
Q

What is the end replication problem?

A

Shortenning of telomerres

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9
Q

What is telomerase ?

A

An enzymes which adds repeats to resynthesis the telomere but it’s only present in stem or germ cells

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10
Q

What are centromeres

A

Repeated DNA sequences which joins sister chromatids together.

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11
Q

What is a kinetochore

A

Protein complex that binds to the microtubules on the centromere

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12
Q

What form is dna when activates or transcribed?

A

Euchromatin

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13
Q

What are extragenic sequences?

A

Repeated DNA sequence which have no biologically function

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14
Q

What is satellite DNA?

A

In centromeres and telomeres
14 to 500 base pairs with mainly A and T

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15
Q

What is minisatellite dna?

A

Present in shorter lengths
15 to 100
GC rich

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16
Q

What is the use of minisatellites

A

Used for paternity tests and DNA fingerprinting

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17
Q

What are the types of highly repeated interspersed DNA?

A

SINE (short interspersed nuclear elements)
LINE

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18
Q

What is a nucleosome?

A

DNA wrapped around a core protein of 8 histones with a histones H1 clipping them onto the histones

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19
Q

What is a solenoid structure?

A

Coiling of nucleosomes
6 nucleosomes per turn
Called a chromatin fibre

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20
Q

How long is a chromatin fibre?

A

30nm

21
Q

What happens to a chromatin fibre before becoming a chromosome?

A

It joins with fibre scaffold complex to form a series of loops to form a chromatin scaffold

22
Q

When are chromosomes most condense?

A

Metaphase

23
Q

Why is heterochromatin important?

A

Negative DNA becomes neutral due to positive histones
Takes up less space
Becomes inactive as it’s inaccessible

24
Q

What is metacentric chromosomes?

A

Where the centromere is near the middle of the chromosome

25
Q

What is sub metacentric chromosomes?

A

The centromere is much hugger up the chromosomes to create a distinct p and a arm

26
Q

What is an acrocentric chromosome?

A

Where the centromere is so far up that the p arm of the chromosome has no function it is just a telomere really

27
Q

What is an example of metacentric chromosomes ?

A

Chromosome 1

28
Q

What is an example of submetacentric chromosomes ?

A

Chromosome 12

29
Q

What is an example of acrocentric chromosomes ?

A

Chromosome 21

30
Q

How are chromosomes analysed?

A

Take blood
Separate out rbc
Culture and incubate
Colchicine added
Separate WBCs
Burst cells using saline
Spread out chromatin on slide
Stain it

31
Q

What is colchicine ?

A

Mitotic inhibitor which causes cells to accumulate at metaphase

32
Q

What is Karotyping?

A

Preparation of a complete set of metaphase chromosomes in order

33
Q

Most of our chromosomes are submetacentric.
True or False

A

True

34
Q

What is FISH?

A

Fluorescence in situ hybridisation
The sequence of interest is labelled with a dye

35
Q

What are the types of Fish probes?

A

Unique sequence probes
Centromeres probes
Telomeric probes
Whole chromosome probes

36
Q

What is a unique sequence probe?

A

Unique sequences are highlighted

37
Q

What is a centromeric probe?

A

Helps determine chromosome number

38
Q

What is a telomeric probe used for?

A

Detect sub telomeric rearrangements
Often in children with unexplained mental retardation

39
Q

What is a whole chromosome probe?

A

Use various probes and fluorescent dyes for each chromosome to create spectral karyotypes to detect translocation Easier to align

40
Q

FISH can be used on an intact nuclei. True or False

A

True

41
Q

What is a bivalent?

A

The sister undergo recombination

42
Q

What is recombination?

A

Exchange of parts of chromosomes between the maternal and paternal copy

43
Q

What is gametogenesis?

A

Production of gametes via meisos

44
Q

What is egg formation called?

A

Oogenesis

45
Q

What is sperm formation called?

A

Spermatogenesis

46
Q

Difference of timing of gametogenseis

A

Females are born with all their eggs in meiosis 1(primary oocytes) males make them in puberty

47
Q

What is x inactivation ?

A

Females zygotes get 2 X chromosomes one gets randomly switched off so it’s never expressed and hidden deep in heterochromatin

48
Q

What is the first enzyme needed for dna replication?

A

RNA primase
To make a complementary segment of rna (a primer)
It allows DNA polymerase to bind onto it

49
Q

What’s the difference between microsatellites and lines/sines?

A

Microsatellites repeats are back to back/consecutive
Lines are repeats dispersed throughout the whole genome randomly (not adjacent)

Principles Of Disease Year 1 (16 decks)

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