Quiz 5 study deck

Question 1

What is the purpose of restriction endonucleases

Answer 1

Cleave DNA into more manageable fragments (4-8 nucleotides long)

Question 2

What pattern are restriction endonucleases usually in

Answer 2

palindrome

Question 3

What do restriction endonucleases prevent

Answer 3

break down foreign material and dna/viruses so they can’t take over cell

Question 4

What does methylation prevent in bacteria

Answer 4

prevents cleavage by restriction enzymes

Question 5

What organism isolated the restriction endonuclease

Answer 5

ECO RI (ecoli ry 13)
G’AATTC

Question 6

What do you need for PCR

Answer 6

DNA, Oligonucleotide Primer, dNTPs, Polymerase (Taq, Thermos, aquaticus), buffer
(DOD likes Peanut Butter)

Question 7

Steps to PCR

Answer 7

1. Denaturing (heated to 95c)
2. Annealing (cooled to 50c)
3. Extension (Warmed to 72c)

Question 8

What is gene flow

Answer 8

movement of genes from one population to the next

Question 9

What is genetic drift

Answer 9

Random changes in allele frequencies, eased by large populations

Question 10

What are the 2 types of genetic drift

Answer 10

1. Founder effect- new population founded by individuals and have similar genes
2. Evolutionary bottlenecks- small sample of population

Question 11

Autosomal recessive pattern of inheritance

Answer 11

Equal frequency of male and female, skip generations
- Increased with inbreeding

Question 12

Which pattern of inheritance is increased with inbreeding

Answer 12

autosomal recessive

Question 13

Autosomal dominant pattern of inheritance

Answer 13

equal frequency in males and females

Question 14

X-linked recessive patterns

Answer 14

• Males more frequently
• Affected male does not pass trait to son, but passes to daughter.

Question 15

X-linked dominant

Answer 15

• Does not skip generations, pass traits to all daughters and no sons

Question 16

Y linked pattern of inheritance

Answer 16

Only appears in males, male infertility.
- Retinitis pigmentosa, abnormal testes.

Question 17

Examples of autosomal dominant

Answer 17

Huntingtons disease, Marfan’s syndrome, achrondroplasia

Question 18

Autosomal recessive diseases

Answer 18

cystic fibrosis, tay-sach’s disease, wilson’s syndrome

Question 19

X-linked recessive diseases

Answer 19

duchanne muscular dystrophy, hemophelia, color blindness

Question 20

What is variable expressivity

Answer 20

Same genetic mutation can be associated with phenotypic spectrum

Question 21

Penetrance variable expression

Answer 21

Porportion of individuals with mutant genotype that express the phenotype

Question 22

Types of penetrance

Answer 22

Complete: All indivdiuals express
Incomplete: only some individuals express it

Question 23

Most common form of color-blindness

Answer 23

Red-green- x-linked recessive

Question 24

MuCune albright syndrome

Answer 24

Developmental mutation, sporadic, birth mark pigmentation,
Weakened bones

Question 25

Missense mutation changes what

Answer 25

the amino acid

Question 26

Nonsense mutation changes what

Answer 26

Stop codon

Question 27

Silent mutation changes what

Answer 27

does not change amino acid, changes single nucleotide

Question 28

What linking are hemophelia

Answer 28

x-linked, recessive

Question 29

Huntingtion's disease repeat pattern

Answer 29

-Autosomal dominant, genetic anticipation

Question 30

Myotonic dystrophy pattern of inheritance

Answer 30

autosomal dominant

Question 31

Clinical features of myotonic dystrophy

Answer 31

Inability to relax muscles, weakness, atrophy of facial muscles

Question 32

Haplotype

Answer 32

set of closely linked genetic markers on a chromosome that are inherited together

Question 33

What are HLA associations

Answer 33

strong genetic associations (leukocyte antigen)

Question 34

Bamboo spine (ankylosing spondylitis) key facts

Answer 34

-HLA-B27 testing to determine, chronic low backaches

Question 35

Duchenne-muscular dystrophy inheritance pattern and clinical significance

Answer 35

-X-linked recessive - No dystrphin gene