Module 2

Question 1

SNP

Answer 1

Most common type of genetic variation. Every 300 bases

Question 2

Candidate SNP

Answer 2

One variant in a sample of 10

Question 3

Validated SNP

Answer 3

Occur in a population at least 1% of the time

Question 4

CNV

Answer 4

Segment of DNA that is 1000 bases or larger. Refers to gains and losses of DNA

Question 5

Germline mutation

Answer 5

Inherited from a parent, present in DNA of all cells

Question 6

Somatic mutation

Answer 6

Not inherited, DNA change in only one cell and subsequent cells

Question 7

Spontaneous mutations

Answer 7

Occurs without external exposure to mutagens

Question 8

Induced mutations

Answer 8

caused by a mutagen like radiation or chemicals

Question 9

De novo mutation

Answer 9

Genetic disease appears in someone with no family history

Question 10

Mutational hot spots

Answer 10

Mutations occur more often in regions with repeats

Question 11

Transposons

Answer 11

A type of spontaneous mutation where genes jump or copy and paste themselves into new regions of the genome

Question 12

Mutagens

Answer 12

Do not cause specific muatations

Question 13

Ionizing radiation

Answer 13

Causes breaks in DNA. Most natural radiation exposure

Question 14

DNA repair 4 types

Answer 14

Nucleotide excision, base excision, mismatch, double stranded breaks

Question 15

Point mutations

Answer 15

Single nucleotide change

Question 16

Sickle cell anemia

Answer 16

Classic example of a point mutation

Question 17

Nonsense mutation

Answer 17

Changes a codon into a stop

Question 18

Readthrough mutation

Answer 18

Stop codon is changed to an amino acid

Question 19

Splice-site mutation

Answer 19

point mutation occurring where intron/exons meet and disrupts splicing

Question 20

Deletion

Answer 20

Removes DNA

Question 21

Insertion

Answer 21

Adds nucleotides

Question 22

Expanding triplet repeat

Answer 22

Number of repeats increases with each generation

Question 23

Paternal age effect

Answer 23

Frequency of mutations in sperm increases with age

Question 24

LOF

Answer 24

No protein produced or does not function properly

Question 25

GOF

Answer 25

New and different function protein

Question 26

Allelic disorders

Answer 26

Mutations in the same gene lead to different phenotypes

Question 27

Conditional mutation

Answer 27

Affects the phenotype only under certain circumstances