L2 Medical Genetics Flashcards

1
Q

what are the 2 types of grooves in the DNA double helix and which is important in transcription?

A

major and minor.

bases are easier to bind to at a major groove, site for transcription factor binding

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2
Q

what are the differences between DNA and RNA?

A

DNA- thymine, double helix, large , stable, fixed, Information store

RNA- uracil, single stranded, mass produced, disposable, translation of DNA, regulatory roles

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3
Q

how Does DNA replicate?

A

double helix is unwound, new bases are paired to each strand, double helix reforms and is checked for errors

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4
Q

DNA helices function?

A

unwinds DNA

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5
Q

DNa primase?

A

adds RNA primers, initiate the Okazaki fragments on the lagging strand

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6
Q

what is DNA polymerase and what direction does it move in?

A

catalyses synths of new DNA strand, moves in 5’to3’ direction

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7
Q

how is the lead strand synthesised?

A

one continues strand

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8
Q

how is the lagging strand syntheised.

A

discontinuously

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9
Q

what is DNA ligase

A

seals gaps between the Okazaki fragments in the lagging strand.

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10
Q

what happens to the RNA primers in the Okazaki fragments

A

they are removed

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11
Q

describe the structure of nucleosome

A

DNa complexed with 8 histones to form a nucleosome

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12
Q

what is karpytping and what are the light and dark bands

A

light areas are where the chromosome is less tight wound

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13
Q

what are telomeres

A

the end of chromosomes, lose some each time we replicate

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14
Q

what is the P arm?

A

shorter arm of chromosome

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15
Q

what is the Q arm?

A

the longer arm of the chromosome

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16
Q

how many PAIRs of chromosomes are ink a human cell

A

23 pairs (46 individual)

17
Q

how many genes are in the mitochondrial genome

A

37 - inherited from the mothers egg

18
Q

what are axons and introns

A

axons are expressed sections of the gene and code for a protein
introns are removed during splicing

19
Q

what are the functions of acetylation and methylation

A

acetylation- gene on
methylation- gene off

allow access (or not) to promoter regions and acetylation for transcription factors