Exam 1

Question 1

Non-coding parts of DNA =

Answer 1

INTRONS.

These are regulatory parts of DNA, they get spliced out. Larger role unknown.

Question 2

Coding parts of DNA

Answer 2

exons

Question 3

primary RNA vs mRNA ->

Answer 3

primary RNA has introns, in mRNA the introns have been spliced out.

Question 4

Alternative splicing happens

Answer 4

when splicing introns out of primary RNA to mRNA, this can create variants of the mRNA which will code for variant proteins.

Question 5

3 nucleotides =

Answer 5

1 codon -> codes for -> 1 amino acid

Question 6

Sequences start with

Answer 6

methionine ! [AUG]

Question 7

sequences end with

Answer 7

STOP codon.[UGA] or UGG?

Question 8

SNP stands for

Answer 8

single nucleotide polymorphism

Question 9

SNP that does not change resulting amino acid =

Answer 9

SILENT mutation

Question 10

SNP that DOES change resulting amino acid =

Answer 10

mutation.

Question 11

SNP found in more than 1% of population =

Answer 11

Human genetic VARIATION

Question 12

SNP found in less than 1% of population =

Answer 12

mutation. Could be silent, could be pathological

Question 13

Frame shift mutation

Answer 13

when you add IN a nucleotide or TAKE OUT a nucleotide, and the whole sequence then shifts one way. - FRAME SHIFT, problematic

Question 14

Majority of SNPs are in

Answer 14

non-coding regions

Question 15

SNPs in non coding regions

Answer 15

[majority of SNPs]

• could have an impact on the splicing. You might not generate the right protein, or this is where transcription happens and it could affect the process of transcription all together.

Question 16

G6PD deficiency

Answer 16

Glucose-6-phosphate dehydrogenase deficiency

Question 17

Actions of G6PD

Answer 17

part of pentose phosphate pathway, provides reducing energy [NADPH] to cells to protect them from ROS.

Question 18

G6PD deficiency affects RBCs because

Answer 18

they are so vulnerable to oxidative stress r/t all the oxygen they carry

Question 19

G6PD deficiency leads to ->

Answer 19

hemolysis, RBC breakdown .

RBC breakdown happens faster than body can produce on own, this goes unnoticed until oxidative stress -> usually from oxidative drugs.

Question 20

Oxidative stress that leads to hemolysis with G6PD deficiency

Answer 20

anti-malarial!
Favism
aspirin, sulfonamides, nitrofurontin, dapsone, primaquine, quinidine,
[be careful wit anti-microbial, anti-biotics]

“OXIDATIVE DRUGS”

Question 21

SNPs are “stable” if

Answer 21

they are functional. If instead they were disadvantageous, they would die out

Question 22

Inheritance pattern of G6PD deficiency

Answer 22

X-linked recessive

Question 23

names of pseudocholinesterase

Answer 23

psuedocholinesterase
butyl cholinesterase
plasma cholinesterase

Question 24

Butylcholinesterase deficiency ->

Answer 24

prolonged apnea time!!
Different per individual.
Heterozygous gene expression -> 1/840??
Homo = 1/3200

In reality, lesser extents where people will have varying amounts

Question 25

Drugs affected by butyl cholinesterase deficiency includes:

Answer 25

SUCCINYLCHOLINE
MIVACURIUM
ester LAs -> cocaine, tetracaine, procaine.

Question 26

Inheritance pattern of butyl cholinesterase deficiency

Answer 26

autosomal recessive

Question 27

Butylcholinesterase deficiency is highest in

Answer 27

caucasian population. 4% affected -> partial deficiency

Question 28

Inheritance pattern of acute intermittent porphyria

Answer 28

autosomal dominant

Question 29

patho of acute intermittent porphyria

Answer 29

A mutation in the biosynthetic pathway of heme, this means one of the enzymes may be deficient, and if that enzyme is induced , you won’t be able to carry out the heme pathway -> clinical symptoms will result from build up of HEME PRE-CURSORS.

Question 30

Drugs that induce acute intermittent porphyria

Answer 30

are drugs that induce CYP system. Also induce ALA synthase.

i.e. barbiturates, estrogens, many anesthetic/sedative drugs.

Question 31

NAT2 =

Answer 31

N-acetyltransferase

Question 32

Slow acetylators more likely to have

Answer 32

drug [isoniazid] toxicity

Question 33

Fast acetylator are more likely to have

Answer 33

hepatotoxicity

Question 34

Acetyltransferase deficiency =

Answer 34

can result in lupus type syndrome.

autoimmune, disease skin, joints, kidney

Question 35

Inheritance pattern: slow acetyltransferase deficiency

Answer 35

single recessive gene

Question 36

NAT2 deficiency alleles

Answer 36

27 reported NAT 2 alleles.

2 COMMON ALLELLS that account for 90% of slow acetylators. (NAT25, NAT26)

Question 37

NAT2 has no

Answer 37

INTRONS. just coding regions.

Question 38

Acetyltransferase is important in metabolism:

Answer 38

isoniazid 
hydralazine 
procainamide 
dapsone 
sulfonamides

Question 39

Phase I reactions

Answer 39

Functionalization reactions

oxidation
reduction
hydrolysis

80% of drugs are metabolized this way

Question 40

Phase II reactions

Answer 40

conjugation reactions

large polar compound attached to functional groups. [covalent bond]

large increase in polarity
Acetylation, glucuronidation

Question 41

Acetylation and glucuronidation are examples of

Answer 41

phase ii reactions

Question 42

CYP450 are examples of

Answer 42

phase I reactions

Question 43

genome contains

Answer 43

3 billion base pairs

Question 44

average gene has

Answer 44

3,000 bases

Question 45

total # of protein coding genes =

Answer 45

22,300

Question 46

> 99% of nucleotide bases

Answer 46

are the same in all people

Question 47

GINA

Answer 47

genetic information nondiscrimination act [2008]