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Pharmacogenetics > Exam 1- lectures 1 & 2 > Flashcards

Exam 1- lectures 1 & 2 Flashcards

1
Q

How much of the genome codes for proteins?

A

2%

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2
Q

how much of the genome is “junk DNA”?

A

50%

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3
Q

how much “difference” do we see in people?

A

0.1%

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4
Q

locus

A

the position of an allele on a chromosome

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5
Q

allele

A

a variant of a gene

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6
Q

central dogma

A

DNA->mRNA->protein

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7
Q

what DNA is inherited?

A

DNA in gametes

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8
Q

4 types of SNP mutations

A

silent, conservative missense, non-conservative missense, nonsense

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9
Q

conservative missense mutation

A

amino acids are similar and the protein function is similar

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10
Q

silent mutation

A

leads to the same amino acid

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11
Q

non-conservative mutation

A

amino acids are different, so chaped & function of protein will change

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12
Q

nonsense mutation

A

codes for a stop codon

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13
Q

most clinically impactful mutations

A

nonsense & non-conservative

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14
Q

incomplete dominance

A

both traits are expressed; blended-> pink

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15
Q

co-dominance

A

not blended; both expressed equally-> red & white spots

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16
Q

mendelial genetics

A

monogenic

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17
Q

quantitative traits

A

(expressivity) traits that vary in the extent to which they are expressed in each individual (i.e. height & weight)

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18
Q

incomplete penetrance

A

not every individual who has the genotype expresses the phenotype; other genes may affect the phenotype

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19
Q

multifactoral traits

A

both environment and genetic components (hemochromatosis)

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20
Q

genetic switching

A

fly eyes

after the genes have already been made, change due to environmental factor & new gene will be passed on to offspring

21
Q

how many deleterious genes does each person carry?

A

estimated 5-8

22
Q

pleiotropism

A

a mutation in a single gene can lead to many effects

23
Q

genetic heterogeneity

A

mutations at several genetic loci may produce the same trait

24
Q

huntington’s diease

A

autosomal dominant
triplet repeat on chromosome 4
dysfunctional protein builds up -> toxic GABA neurons
hyperkinesis, parkisonian rigidity, bradykinesia, death w/in 15 years

25
Q

familial hypercholesterolemia

A

autosomal dominant
defective LDL receptor-> inability to bind LDL & transport
atheroscleosis, MI by 20 yo

26
Q

autosomal dominant diseases

A

huntington’s disease

familial hypercholesterolemia

27
Q

autosomeal recessive dieases

A

PKU,
cystic fibrosis
sickle cell anemia

28
Q

phenylketonuria (PKU)

A

defective phenylalanine hydrocylase

phenylalanine is not catabolized-> build up in CNS-> severe mental retardation

29
Q

cystic fibrosis

A

defective Cl ion channel-> thickened mucus secretions

resp. infections, pancreatic dysfunction, impaired male fertility

30
Q

sickle cell anemia

A

defective HbS

sickling of RBCs-> blockage of blood vessels-> tissue hypoxia

31
Q

x-linked recessive diseases affect who most?

A

males bc X is inherited from mother

32
Q

x-linked recessive dseases

A

hemophilia A & B
GPPD deficiency
diabetes insipidus

33
Q

hemophilia A & B

A

defect in clotting factors 8 & 9

-> prolonged bleeding due to inability to form a fibrin clot

34
Q

G6PD deficiency

A

usually asymptomatic until triggered (drugs, infection, fava beans)-> RBC unable to repaid

35
Q

diabetes insipidus

A

mutation in AVPR2 gene-> defective vasopressin receptor

36
Q

what is the most common enzyme deficiency in humans?

A

G6PD

37
Q

polygenic traits

A

height, intelligence, BP, skin color, metabolic parameters

38
Q

polygenic continuous diseases

A

HTN, DM

39
Q

polygenic congenital malformations

A

cleft lip & palate, pyloric stenosis, anencephaly, congenital heart disease

40
Q

polygenic discontinuous diseases

A

manic-depressive psychosis, rheumatoid arthritis

41
Q

diseases due to non-disjunction

A

down’s syndrome (trisomy 21)
turner’s syndrome (X0)
klinefeiter’s syndrome (XXY)

42
Q

positive selection examples

A 
alcohol tolerance
lactose tolerance
sickle cell anemia- heterozygous protects against malaria
CF- protects against thyoid
tay sachs- protects against TB
type AB blood- resistant to cholera
43
Q

gene-environment interaction examples

A

multiple sclerosis, asthma, factor V leiden & OCPs

44
Q

multiple sclerosis

A

higher incidence far from equator (US, Canada, N. Europe)

45
Q

increased risk of venous thrombosis in oral contraceptive users who are carriers of what mutation?

A

factor V leiden mutation

46
Q

what is the most common cardiovascular event in young women?

A

venous thrombosis

47
Q

factor V Leiden mutation

A

ARG replaced by GLN at 506
R506 is the cleavage site for aPC
R506Q is not cleaved, there fore factor V is not inactivated
overproduction of thrombin & fibrin-> excessive clotting

48
Q

ACMG recommendations when to do genetic testing for Factor V Leiden mutation & OC use

A

-<50, MI and smoker

49
Q

routine genetic screening

A

trisomy 21, trisomy 12, sick cell, GALT, CF, G6PD, PKU, Beta-thelassemia, etc

Pharmacogenetics (8 decks)

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