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
