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Flashcards in Final Deck (32)
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1

Example of AD

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

Ay allele

Huningtons disease-abnormal H++ gene

Wooly hair

2

examples of AR

- PKU- mutation in Pah gene

-Albinism-no melanin prod.

3

X linked dom

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

4

x linked recesive

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

5

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

nick-DNA ligase

Full-NHEJ

6

What causes Cri du chat

deletion in chromosome 5

7

Paricentric vs paracentric inversion

- pari- centromere is within inverted segment

para- centromere is outside inverted segment

8

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

alternate- both live

alternate 1- one down, one die

adjacent 2- both die

9

Trisomy, 12, 13, 18

12- down

13- Patau

18- Edwards

10

What is nondisjunction

- failure of chromosomes to segregate normally during meiosis 11

11

Alloploid vs Amphiploid

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

amphidiploid- has two diploid genomes, each from dif parents

12

Meristic traits vs Threshold

eristic- phenotypes described by whole numbers

13

What does CCr5 gene do

encodes protein CCR532 which is resistant to infection by HIV

14

Founder effect

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

15

pop bottleneck

-large proportion of imdv. die

16

how to calculate avg. fregment length

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

17

2 steps to cloning fragments of DNA

1. insert DNA fragments into cloning vectors to make recombinant DNA molecules

2. Transport recombinant Dna into living cell to be copied

18

2 steps to creating recombinant DNA molecules with plasmid vectors

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)

19

What does sanger sequence use to make DNA

DNA polymerase

20

single nucleotide polymorphism

1 base pair changes ( Sickle cell anemia)

21

deletion-insertion polymorphism

short/ deletion of base pairs

22

simple sequence repeats

1-10 base pairs repeated 10-15 times

23

copy number variants

large blocks of duplication/deletion

24

polymerase chain reaction

method of making many copies of a target DNA

25

Steps of PCR (3 steps and temp)

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'

26

T/F- mitochondrial DNA pass maternally

T

27

Procedure for injecting transgender

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

28

inactivated vaccines

-prepared from killed samples of bacteria + viruses

29

Attenuated Vacines

-weakend or live pathogen which can't reproduce

30

subunit viruses

- cloned surface proteins, stems immune system

31

Recomboinant retroviral genome

integrates into genome, treats SCID

32

AAV vector

Doesn't integrate into genome, treats blindness