Ch 14 mutations and Genetic Variation

Question 1

What is the wild type sequence?

Answer 1

The most common that appears

Question 2

What is a polymorphism?

Answer 2

A variation in the DNA sequence that is too common to be due to mutation. for example SNPs

Question 3

How can mutations result?

Answer 3

Errors in dna replication, Environmental damage, spontaneous dna decay

Question 4

What are mutations?

Answer 4

heritable changes in DNA

Question 5

What are somatic mutations?

Answer 5

Mutations in body cell and is passed from daughter cells but not offspring

Question 6

What are Germ Line Mutations?

Answer 6

mutations in cells that produce gametes and passed to offspring

Question 7

What is the effect of a silent mutation?

Answer 7

Changes Amino Acid sequence but not the protein function

Question 8

What is the effect of a loss of function mutation?

Answer 8

affects protein function and may lead to a loss of function

Question 9

What is the effect of a gain of function mutation?

Answer 9

Leads to a protein with altered function

Question 10

What is the effect of a conditional mutation?

Answer 10

Causes phenotypes under restrictive conditions

Question 11

What is a point mutation?

Answer 11

change in single base pair that results in loss, gain, or substitution

Question 12

What is a silent point mutation?

Answer 12

A base change results in a changed amino acid but has no effect on the Protein sequence

Question 13

What is a missense point mutation?

Answer 13

When the base substitution results in Amino Acid change and either disabled, altered, or no effect on the protein

Question 14

What is a nonsense point mutation?

Answer 14

Base substitution results in stop codon early on

Question 15

What is a frame shift point mutation?

Answer 15

Single bases are inserted or deleted causing all Amina Acids beyond it to change. Must be something not a multiple of 3.

Question 16

What are the four types of chromosomal mutations?

Answer 16

Deletion (single chromosome is shorter), Duplication( homologous chromosomes where one is shorter and the other longer), Inversions (one chromosome is flipped), and translocations ( two not homologous chromosomes are joined)

Question 17

True or False Mutations are Random?

Answer 17

True- like mutations causing resistance are just becoming more common.

Question 18

How did Lederberg prove mutations are random?

Answer 18

By the culture plates and proving the environment does not induce mutations

Question 19

Genotype is

Answer 19

The DNA sequence

Question 20

Phenotype is…

Answer 20

Physical appearance influenced by genotype and environment

Question 21

What is a Genetic Risk Factor?

Answer 21

a mutation that increases the risk of a particular disease

Question 22

What does DNA fingerprinting use?

Answer 22

Uses VNTR’s which is number of repeats to see matches like comparing DNA at crime scene to suspects through Gel electrophoresis

Question 23

What are SNP’s?

Answer 23

Single Nucleotides polymorphism like eye color

Question 24

What is copy number variation?

Answer 24

Differences among individuals in the # of copies of a region in the genome

Question 25

Trisomies, Monosomies, and Polyploid

Answer 25

Trisomies are one extra, mono is one less, polyploidy is extra sets

Question 26

What are the three types of DNA Repair?

Answer 26

Mismatch, base excision, and nucleotide excision