BIO 621 Lecture 1

Question 1

Transversion

Answer 1

Single nucleotide change

Question 2

Mutation

Answer 2

A change from known original genotype

Question 3

Variant

Answer 3

A relationally unknown version of a similar genotype

Question 4

Transition

Answer 4

Single nucleotide change

Question 5

Indels

Answer 5

Insertion or deletion mutations usually causing frameshift

Question 6

Inversion

Answer 6

Flipped/ reversed sequence

Question 7

Aneuploidy

Answer 7

Number of chromosomes are not a multiple of an integral; opposite= Euploidy

Question 8

Number of base pairs in human genome

Answer 8

~ 3 billion

Question 9

Number of known human genes

Answer 9

~22,000 - 24,000

Question 10

Missense conservative mutation

Answer 10

Creates chemically similar amino acid ( a.a.)

Question 11

Type of mutations caused by transitions, transversions

Answer 11

Missense conservative, Missense nonconservative, synonymous, nonsense

Question 12

Modification on 5’ end of mRNA

Answer 12

5’ methyl guanine cap

Question 13

Modification on 3’ end of mRNA

Answer 13

3’ poly-Adenosine (poly-A) tail

Question 14

Northern blot

Answer 14

Measures RNA size

Question 14

Actions of mutations on mRNA

Answer 14

General viability, intron splicing and subsequent frame shift from that

Question 15

Mutagens causing frameshifts (indels)

Answer 15

Intercalating agents (acrinides), Alkylating agents? (nitrogen mustards?)

Question 16

Mutagens causing single nucleotide change

Answer 16

Alkylating agents, base analogs (5-BrUracil)

Question 17

Mutagens causing insertions (duplications)

Answer 17

Transposable elements

Question 18

Mutagens causing chromosomal rearrangements

Answer 18

X rays

Question 19

amorphic mutation

Answer 19

loss-of-function

Question 20

hypermorphic mutation

Answer 20

gain-of-function