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Principles of disease AM > Chromosomes and cell division > Flashcards

Chromosomes and cell division Flashcards

1
Q

What is the telomere?

A

5’-TTAGGG-3’ repeats on the end of the chromosomes to protect them

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2
Q

What is the centromere?

A

Constricted region of repeating DNA joining sister chromatids together
Site of kinetochore

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3
Q

What are the stages of the cell cycle and what happens in each?

A

G1- growth
S- DNA synthesis
G2- cell prepaid for mitosis
M- mitosis

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4
Q

What are the stages of mitosis and what happens in each?

A

Prophase- chromosomes condense, nuclear membrane disappears, spindle fibres form
Metaphase- chromosomes align at centre of cell and spindle fibres attach
Anaphase- Sister chromatids separate longitudinally and move to opposite poles of the cell
Telophase- new nuclear membrane forms
Cytokinesis- Cytoplasm separates

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5
Q

What is the kinetochore?

A

Protein complex that binds to the microtubules and is required for chromosomes

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6
Q

What is heretochromatin?

A

Condensed, usually inactive form of DNA

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7
Q

What is euchromatin?

A

Open, usually active genes

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8
Q

What are extragenic sequences?

A

Tandemly repeated DNA sequences making up roughly 45%of the genome

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9
Q

What is a nucleosome?

A

146 base pairs wrapped around 8 histone proteins

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10
Q

What is the charge of DNA and histone?

A 
DNA= negative
Histone= positive
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11
Q

What are chromatin fibres?

A

Tightly packed nucleosomes

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12
Q

What are centromeric probes useful for?

A

Determining chromosome number

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13
Q

What are telomeric probes useful for?

A

Determining subtelomeric arrangements

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14
Q

What are whole chromosome probes and what are they useful for?

A

Cocktail of different probes covering different parts of a particular chromosome
Determining translocations and rearrangements

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15
Q

What is oogenesis?

A

Meiosis of the gremline cells to form ova

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16
Q

What is spermatogenesis?

A

Meiosis of gremlin cells to form sperm

17
Q

What are the different types of chromosomal abnormalities and what are they?

A

Numerical- karyotype has wrong number of chromosomes
Structural- chromosomes rearranged
Mutational- change to DNA sequence

18
Q

What is a trisomy?

A

Muttion causing there to be 3 copes of a particular chromosome

19
Q

What does trisomy 13 cause?

A

Patau

20
Q

What does trisomy 18 cause?

A

Edwards

21
Q

What does trisomy 21 cause?

A

Downs

22
Q

What does the XXY mutation cause?

A

Klinefelter

23
Q

What does the X mutation cause?

A

Turner

24
Q

How many gametes would be affected by a problem with disjunction in meiosis 1?

A

All

25
Q

How many gametes would be affected by a problem with disjunction in meiosis 2?

A

2

26
Q

Why are mutations more likely in older mothers?

A

Disjunction becomes less accurate the longer eggs sit having completed meiosis 1 and not 2

27
Q

What are the types of translocation mutation?

A 
Deletion
Insertion
Inversion
Balanced
Unbalanced
28
Q

What is a reciprocal translocation?

A

Involving breaks in two chromosomes with formation of two new derivative chromosomes

29
Q

What is a Robertsonian translocation?

A

Twi afrocentric chromosomes are fused but no genetic material is lost

30
Q

What is an inversion translocation?

A

2 breaks in chromosome repaired incorrectly so all information is present but in wrong order
Not normally harmful unless it involves centromere

31
Q

What is polymorphism?

A

Differences in genetic code between individuals that doesn’t cause abnormality

32
Q

What are the types of coding mutations?

A

Silent
Missense
Nonsense
Frameshift- insertion, deletion

33
Q

What is used to detect genetic mutations?

A

Polymerase chain reaction
Gel electrophoresis
Restriction fragment length polymorphism analysis
Amplification refractory mutation system

34
Q

What is the amplification refractory mutation system used to detect?

A

Single base changes or small deletions

35
Q

What is a disadvantage of the amplification refractory immune system?

A

Nature of mutation must be known

Principles of disease AM (16 decks)

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