Module 2 Flashcards

1
Q

SNP

A

Most common type of genetic variation. Every 300 bases

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2
Q

Candidate SNP

A

One variant in a sample of 10

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3
Q

Validated SNP

A

Occur in a population at least 1% of the time

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4
Q

CNV

A

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

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5
Q

Germline mutation

A

Inherited from a parent, present in DNA of all cells

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6
Q

Somatic mutation

A

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

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7
Q

Spontaneous mutations

A

Occurs without external exposure to mutagens

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8
Q

Induced mutations

A

caused by a mutagen like radiation or chemicals

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9
Q

De novo mutation

A

Genetic disease appears in someone with no family history

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10
Q

Mutational hot spots

A

Mutations occur more often in regions with repeats

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11
Q

Transposons

A

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

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12
Q

Mutagens

A

Do not cause specific muatations

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13
Q

Ionizing radiation

A

Causes breaks in DNA. Most natural radiation exposure

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14
Q

DNA repair 4 types

A

Nucleotide excision, base excision, mismatch, double stranded breaks

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15
Q

Point mutations

A

Single nucleotide change

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16
Q

Sickle cell anemia

A

Classic example of a point mutation

17
Q

Nonsense mutation

A

Changes a codon into a stop

18
Q

Readthrough mutation

A

Stop codon is changed to an amino acid

19
Q

Splice-site mutation

A

point mutation occurring where intron/exons meet and disrupts splicing

20
Q

Deletion

A

Removes DNA

21
Q

Insertion

A

Adds nucleotides

22
Q

Expanding triplet repeat

A

Number of repeats increases with each generation

23
Q

Paternal age effect

A

Frequency of mutations in sperm increases with age

24
Q

LOF

A

No protein produced or does not function properly

25
GOF
New and different function protein
26
Allelic disorders
Mutations in the same gene lead to different phenotypes
27
Conditional mutation
Affects the phenotype only under certain circumstances