T2 Genome Variation

Question 1

How many base pairs are there in a diploid genome?

Answer 1

3x10^9

Question 2

How many different base pairs do any two people have?

Answer 2

6x10^6 (0.1% genome)

Question 3

how many mutations are there in each diploid human genome?

Answer 3

70 (+ w/ paternal age; x20 ++ in somatic cells)

Question 4

Describe neutral variation

Answer 4

• small

- no obvious phenotype change

Question 5

how much of our DNA is poorly conserved?

Answer 5

90%

Question 6

what is the most abundant type of variation?

Answer 6

SNVs

Question 7

What is the most common SNPs?

Answer 7

C –> T

Question 8

Where do RFLPs occur?

Answer 8

target site for nuclease enzyme

Question 9

What are CNVs?

Answer 9

large indels, sequences >100 nucleotides in length

Question 10

What do intronic variants affect?

Answer 10

• regulation of transcription

- splicing

Question 11

what do coding variants result in?

Answer 11

• missense
• nonsense
• silent

Question 12

Why do simple repeats (VNTRs, STRs, SSRs) have poor call rates compared to non-repetitive DNA?

Answer 12

refractive to sequencing

Question 13

How much of genome contributes to CNVs?

Answer 13

4.8-9.7%

Question 14

what areas of chromosome show high prevalence of CNV?

Answer 14

• pericentromeric

- subtelomeric

Question 15

which genes are least affected by CNVs?

Answer 15

genes associated with disease

Question 16

which genes are most affected by CNVs?

Answer 16

paralogous genes

Question 17

which gene involved in the inverse correlation between skin pigmentation and lattitude, favouring lighter skin to facilitate vitamin D synthesis far away from equator?

Answer 17

SLC24A5

Question 18

what does FOXP2 regulate?

Answer 18

• neural motor control of oraficial regions

- vocalisation

Question 19

where is most human genetic variation found?

Answer 19

within population