Human Genome Flashcards

1
Q

G-Banding can detect

A

Large changes in chromosome structure

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2
Q

FISH cannot detect

A

Single nucleotide changes

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3
Q

FISH can detect

A

Changes in chromosome structure too small to be detected with G-banding

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4
Q

CGH can detect

A

Deletions or duplications even if their location is not known

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5
Q

Interphase FISH

A

Chromatin
Faster
Lower resolution because DNA isn’t condensed

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6
Q

Metaphase FISH

A

Chromosome

Need cell culture to amplify number for incubation

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7
Q

FISH requires

A

Location to be known in order to design probe

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8
Q

G-Banding

A

Giemsa stain to create patter of dark/light bands for each chromosome

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9
Q

In G-Banding, the cells are arrested in

A

Metaphase

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10
Q

Chromosomes are identified by: (3)

A

Size
Centromere position
Banding pattern

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11
Q

What region stains the darkest in G-Banding?

A

Heterochromatic region because it’s AT rich

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12
Q

Large Repeats

A

Recombination more likely

Can lead to inversions, duplication, deletions

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13
Q

Short repeats- Satellite sequences

A

Mostly in centromeres and telomeres

Tandem repeats of a few hundred bp long

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14
Q

Short Repeats- Micro-Satellites

A

Repeats of a few nucleotides

Copy number highly variable

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15
Q

Retrotransposons

A

Self amplifying gene sequences

Only LINEs thought active in humans

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16
Q

Types of Retrotransposons (3)

A

LTR (long terminal repeats)
LINE (long interspersed nuclear elements) which are mRNAs encoding reverse transcriptase
SINE (short interspersed nuclear elements)