Final

Question 1

Example of AD

Answer 1

Achondroplasia- imdv. AA don’t survive (Aa have it)

Ay allele

Huningtons disease-abnormal H++ gene

Wooly hair

Question 2

examples of AR

Answer 2

• PKU- mutation in Pah gene

- Albinism-no melanin prod.

Question 3

X linked dom

Answer 3

• more common in females
• affected mothers to sons/daughters
  affected sons to only daughters

Question 4

x linked recesive

Answer 4

• males more affected
• males only to daughters
• Hemophillia A- so clotting

Question 5

What repairs a nick in DNA and what repairs a full double backbone break

Answer 5

nick-DNA ligase

Full-NHEJ

Question 6

What causes Cri du chat

Answer 6

deletion in chromosome 5

Question 7

Paricentric vs paracentric inversion

Answer 7

• pari- centromere is within inverted segment

para- centromere is outside inverted segment

Question 8

if downsyndrom mates with normal how many will live Alternate, adjacent 1, adjacent 2

Answer 8

alternate- both live

alternate 1- one down, one die

adjacent 2- both die

Question 9

Trisomy, 12, 13, 18

Answer 9

12- down

13- Patau

18- Edwards

Question 10

What is nondisjunction

Answer 10

• failure of chromosomes to segregate normally during meiosis 11

Question 11

Alloploid vs Amphiploid

Answer 11

allo- hybrids in which chromosomes come from distinct/ related species

amphidiploid- has two diploid genomes, each from dif parents

Question 12

Meristic traits vs Threshold

Answer 12

eristic- phenotypes described by whole numbers

Question 13

What does CCr5 gene do

Answer 13

encodes protein CCR532 which is resistant to infection by HIV

Question 14

Founder effect

Answer 14

a few imdv. separate from a larger pop + establish new pop

Question 15

pop bottleneck

Answer 15

-large proportion of imdv. die

Question 16

how to calculate avg. fregment length

Answer 16

• 4^n where n is # of bases in recognition site

Question 17

2 steps to cloning fragments of DNA

Answer 17

1. insert DNA fragments into cloning vectors to make recombinant DNA molecules
2. Transport recombinant Dna into living cell to be copied

Question 18

2 steps to creating recombinant DNA molecules with plasmid vectors

Answer 18

1. digestion of the vector +human genomic DNA with some restriction enzymes results in complementary stick ends (ligase seals)
2. Host cells take up and amplify recombo DNA (only media with ampicillin will grow)

Question 19

What does sanger sequence use to make DNA

Answer 19

DNA polymerase

Question 20

single nucleotide polymorphism

Answer 20

1 base pair changes ( Sickle cell anemia)

Question 21

deletion-insertion polymorphism

Answer 21

short/ deletion of base pairs

Question 22

simple sequence repeats

Answer 22

1-10 base pairs repeated 10-15 times

Question 23

copy number variants

Answer 23

large blocks of duplication/deletion

Question 24

polymerase chain reaction

Answer 24

method of making many copies of a target DNA

Question 25

Steps of PCR (3 steps and temp)

Answer 25

1. denaturing- @95 C, separates dsDNA to ssDNA 2. Annealing- 50-70 C, ssDNA primers base pair with specific sequences of target DNA 3. Extension- 72C, extends primers from 5' to 3'

Question 26

T/F- mitochondrial DNA pass maternally

Answer 26

T

Question 27

Procedure for injecting transgender

Answer 27

- fertalized eggs harvested - transgene injected into eggs - if transgender integrated after cell division, the transgender will be in some cells and not others

Question 28

inactivated vaccines

Answer 28

-prepared from killed samples of bacteria + viruses

Question 29

Attenuated Vacines

Answer 29

-weakend or live pathogen which can't reproduce

Question 30

subunit viruses

Answer 30

- cloned surface proteins, stems immune system

Question 31

Recomboinant retroviral genome

Answer 31

integrates into genome, treats SCID

Question 32

AAV vector

Answer 32

Doesn't integrate into genome, treats blindness