By the numbers Flashcards

1
Q

Imprinted genes in the human genome (percentage)

A

10%

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2
Q

How large is the haploid human genome sequence?

A

3x10^9 base pairs

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3
Q

How many mutations occur in each individual?

A

approximately 30

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4
Q

How many SNPs are there between any two individuals?

A

1 in every 1000 bp = 3,000,000 but we are 99.9% identical

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5
Q

What percentage of the genome is GC rich vs AT rich

A

38% GC, 54% AT. This is the basis for G-Banding

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6
Q

What percentage of the human genome is translated?

A

~1.5%

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7
Q

What percentage of the euchromatic human genome is made up of genes?

A

~20-25%

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8
Q

What percentage of the euchromatic human genome is made up of single copy sequences?

A

~50%

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9
Q

What percentage of the euchromatic human genome is made up of repetitive DNA (repeated hundreds to millions of times)?

A

~40-50%

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10
Q

What percentage of the human genome is derived from segmental duplications?

A

~5%

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11
Q

How many cross-over events per pair of homologs?

A

~2-3

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12
Q

What percentage of spontaneous abortions are due to aneuploidy?

A

50-60%

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13
Q

How common is Down Syndrome?

A

1/800 to 1/900 live births, though risk increases with maternal age.

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14
Q

How common is Trisomy 18?

A

1/8000 births with 90% perinatal lethality

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15
Q

What is a significant LOD (Log of Odds) Score?

A

Greater than 3.0

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16
Q

What percentage of drugs are metabolized by enzymes encoded for in the CYP 450 gene family.

A

~90%

17
Q

Where do adverse drug reactions sit on the list of leading causes of death

A

4th to 6th

18
Q

What is the incidence of Down Syndrome?

A

1/700 live births

19
Q

What is the frequency of chromosome missegregation?

A

2-4x10^-2/cell division

20
Q

What is the frequency of chromosome rearrangement?

A

6x10^-4/cell division

21
Q

What is the frequency of base pair mutation?

A

10^-5 to 10^-6/locus/generation

22
Q

How frequent is a new mutation in an offspring’s genome as compared to the parents

A

1/40 people