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Principles of Disease > Chromosomes > Flashcards

Chromosomes Flashcards

1
Q

What is G1 of the cell cycle?

A

The first growth phase

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2
Q

What is G2 in the cell cycle?

A

The second growth phase

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3
Q

What occurs at the S phase of the cell cycle?

A

DNA Replication

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4
Q

What is the M phase of the cell cycle?

A

The mitotic phase

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5
Q

How long does the mitotic phase of the cell cycle last?

A

1-2 hours

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6
Q

What happens at prophase of mitosis?

A

Chromosomes condense
Nucelar membranes disappear
Spindle fibres form from the centriole

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7
Q

What happens at metaphase of mitosis?

A

Chromosomes aligned at the equator of the cell
Attatched by fibre to each centriole
Maximum condensation of chromosome

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8
Q

What happens at anaphase of mitosis?

A

Sister chromatids separate at centromere
Separate longitudinally
Move to opposite ends of the cell

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9
Q

What happens at telophase of mitosis?

A

New nuclear membranes form

Each cell contains 46 chromosomes (diploid)

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10
Q

Cytokinesis

A

Cytoplasm separates

Two new daughter cells are formed

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11
Q

What is the centromere?

A

The constricted region joining sister chromatids

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12
Q

Where is the site of the kinetochore?

A

The centromere

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13
Q

What is the kinetochore?

A

Protein complex that binds to microtubules

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14
Q

What are required for chromosome separation during cell division?

A

Microtubules

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15
Q

What are heterochromatin?

A

Condensed structure

These are the silenced genes

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16
Q

What are euchromatin?

A

They are open structures

They are the active genes

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17
Q

How many base pairs are there?

A

3 million

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18
Q

How many genes are there roughly in DNA?

A

20000-30000

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19
Q

What percentage of DNA is protein coding?

A

2%

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20
Q

What proteins is SNA packaged with?

A

Histone

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21
Q

What charge do histone proteins carry?

A

Positive

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22
Q

DNA packaged around histone proteins are units called what?

A

Nucleosomes

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23
Q

What appearance does DNA wrapped around histones give?

A

Beads on a string

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24
Q

Nucleosomes are further wrapped how many times?

A

6 nucleosomes per turn

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25
Q

What do 6 nucleosomes wrapped form?

A

Solenoid structure

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26
Q

What effect does the histone proteins have on the charge of DNA?

A

The negatively charged DNA is neutralised by the positively charged histone proteins

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27
Q

Why is DNA folded so much?

A

So it takes up less space and can be compacted into the small nucleus

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28
Q

What is karyotype?

A

A test to identify and evaluate the size, shape and number of chromosomes in sample of the bodies cells

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29
Q

In what cells does meiosis occur?

A

Germ Cells

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30
Q

What is the purpose of meiosis?

A

To create a lot of genetic variation

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31
Q

In which diploid cells does meiosis occur?

A

Ovaries and testes

32
Q

What is oogenesis?

A

The process of egg formation

33
Q

What is spermatogenesis?

A

The process of sperm formation

34
Q

What goes through more cells divisions sperm or eggs?

A

Sperm

35
Q

When does gametogenesis commence in males?

A

Puberty

36
Q

When does gametogenesis commence in females?

A

Early embryonic life

37
Q

How many sperm are there per ejaculation?

A

100-200 million

38
Q

Briefly describe the process of fertilisation

A

Two haploid cells form 1 diploid cell (zygote)

39
Q

What does the zygote develop into?

A

Embryo

40
Q

What is the name of the cell formed at fertilisation called?

A

Zygote

41
Q

Where are mitochondria inherited from?

A

The maternal side

42
Q

What is X inactivation in female mammals?

A

In the early embryo there can be a random inactivation of one of the X chromosomes

43
Q

What are the 3 types of general chromosome abnormalities?

A

Numerical
Structural
Mutational

44
Q

What is the incidence of chromosome abnormalities in miscarriages?

A

50%

45
Q

What is the incidence of chromosome abnormalities in still born infants?

A

5%

46
Q

What does trisomy mean?

A

Three copies of the chromosome

47
Q

What is the disease caused by trisomy 21?

A

Down syndrome

48
Q

What is the average life expectancy of someone with down syndrome?

A

50-60

49
Q

Is trisomy 21 usually from the paternal or maternal origin?

A

Maternal

50
Q

What disease does trisomy 13 cause?

A

Patau syndrome

51
Q

Is trisomy 13 usually from the maternal or paternal origin?

A

Maternal

52
Q

What does trisomy 18 cause?

A

Edwards syndrome

53
Q

What is the prognosis of Edwards syndrome?

A

Most patients die within the first year and many die within the first month

54
Q

Is trisomy 18 usually from the maternal or paternal origin?

A

Maternal

55
Q

What is a balanced translocation?

A

This is when there is an even exchange of material between chromosomes with no genetic information extra or missing

56
Q

What is an unbalanced translocation?

A

Where the exchange of chromosome material is unequal and results in extra or missing genes

57
Q

How many chromosomes are there in robertsonian translocation/

A

45

58
Q

What type of mutation is robertsonian?

A

Translocation

59
Q

What happens in robertsonian translocation mutation?

A

Two chromosomes are fused together but no genetic information is lost

60
Q

What is a deletion mutation?

A

A mutation where part of the genetic material is deleted and therefore missing

61
Q

What is an inversion mutation?

A

When a piece of DNA is flipped end on end

62
Q

What are the 2 types of inversion mutations?

A

Paracentric

Pericentric

63
Q

What is a paracentric inversion mutation?

A

There is a break and the DNA is reinserted

64
Q

What is a pericentric inversion mutation?

A

There is a break and the DNA is reinserted at the centromere position

65
Q

What is polymorphism?

A

The natural variation that occurs in all people

66
Q

Does polymorphism cause any disease?

A

No - it does not cause any disease whatsover

67
Q

What is a silent mutation?

A

when the bases change but it codes for the same amino acid - therefore the mutaiton goes unoticed

68
Q

What is a missense mutation?

A

When there is a change in one base and one amino acid. The protein makes come sense but not the original sense

69
Q

What is a nonsense mutation?

A

There is a change in base, there is a change in one amino acid - however it becomes a stop codon - the protein synthesis makes no sense

70
Q

What is a frameshift mutation caused by?

A

Deletion and insertion

71
Q

What is the effect of frameshift?

A

All bases are subsequently changed

72
Q

Is PCR and in vitro or in vivo technique?

A

In vitro

73
Q

What are the three step of PCR?

A

Denature
Anneal
Extend

74
Q

Roughly how many times is PCR repeated?

A

20-30 times

75
Q

What is the purpose of PCR?

A

To amplify DNA

76
Q

What does gel electrophoresis separate DNA fragments according to?

A

Size

77
Q

What charge does DNA have?

A

Negative charge

Principles of Disease (14 decks)

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