Lecture 13

Question 1

What are neutral mutations?

Answer 1

protein amount and activity unchanged

Question 2

What are hypomorphic mutations?

Answer 2

protein amount or activity decreased

Question 3

What are amorphic mutations?

Answer 3

protein amount or activity eliminated

Question 4

G + E = ?

Answer 4

phenotype

Question 5

Genes are named by what?

Answer 5

mutant phenotype or protein

Question 6

Alleles are named by what?

Answer 6

discovery or phenotype

Question 7

What is the database for humans?

Answer 7

OMIM

Question 8

What are somatic mutations?

Answer 8

if cell continues to reproduce the result is a region of mutant cell

NOT heritable

Question 9

What are germline mutations?

Answer 9

parent is not affected

offspring = all cells (somatic and germline) are affected

Question 10

What is an inherited mutation?

Answer 10

Germline mutations become inherited mutations

Each generation is affected

Question 11

Why do pseudogenes happen?

Answer 11

There is a nonsense mutation that causes other mutations, completely breaking the gene

Question 12

Do humans have disease genes?

Answer 12

no. genes can make DNA repair enzymes, and mutant alleles can cause cancer

Question 13

Where do most mutations occur?

Answer 13

between genes

Question 14

What are SNPs?

Answer 14

single nucleotide polymorphisms. a single base substitution

used in gene mapping

low mutation rate

Question 15

What are STRs?

Answer 15

short tandem repeats

short sequences of DNA (2–6 base pairs) repeated in tandem (such as a repeat unit of 4 bases)

higher mutation rate due to replication slippage

used in dna fingerprinting