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Principles > Genetics - Chromosomes and Cell Division > Flashcards

Genetics - Chromosomes and Cell Division Flashcards

1
Q

How is a chromosome recognised?

A

Banding pattern with specific stains, length and position of centromere. Slide 8

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2
Q

What are the parts of the chromosome?

A

Telomere - the end
Short arm (p) - above the centromere
Centromere
Long arm (q) - below the centromere. Slide 8

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3
Q

What are telomeres for?

A

Protection and replication. Slide 8

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4
Q

What are acrocentric chromosomes?

A

Where the short arm doesn’t really matter as it may be really small so it codes for satellite ribosomal genes e.g. tRNAs. Slide 9

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5
Q

What are the two types of chromosome rearrangement?

A

Balanced and unbalanced. Slide 11

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6
Q

What is the difference between balanced and unbalanced?

A

In balanced all the chromosomal material is present, in unbalanced there is either extra or missing chromosomal material. Slide 11

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7
Q

Why must you understand conventional cytogenetics?

A

It is essential to interpret modern genetic analysis using molecular techniques. Slide 12

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8
Q

What does aneuploidy mean?

A

Whole extra or missing chromosome. Slide 13

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9
Q

What does translocation mean?

A

Rearrangement of chromosomes. Slide 13

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10
Q

What does insertion and deletion mean?

A

Missing or duplicated genetic material. Slide 13

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11
Q

What causes down syndrome?

A

3 chromosomes 21. Slide 14

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12
Q

What is Robertsonian Translocation?

A

When two acrocentric chromosomes are stuck end to end (small p arms). Slide 17

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13
Q

Why is X chromosome aneuploidy better tolerated than down syndrome?

A

Due to X inactivation. Slide 22

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14
Q

What is reciprocal translocation?

A

When two chromosome parts swap so it is balanced. However there is a reproductive risk. Slide 24

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15
Q

What can unbalanced reproductive products result in?

A

Miscarriage or dysmorphic delayed child. Slide 31

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16
Q

How does FISH work?

A

Allows one specific genetic area to be targeted. Slide 34

17
Q

What are two molecular techniques to see cytogenetics?

A

Array Comparative Genomic Hybridisation (aCGH) and Quantitative PCR. Slide 38

18
Q

What does microarray CGH do?

A

Detects any missing/duplicated piece of chromosome but many changes seen are neutral DNA polymorphisms. Slide 39

19
Q

What is mosaicism?

A

When different cells have a different genetic constitution. You acquire mutations are cells develop. Slide 44+46

20
Q

What does the aCGH not capable of?

A

Doesn’t detect balanced rearrangements. Slide 54

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