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genetics Flashcards

1
Q

describe electrical pathway of hear

A

SA in upper RA to AV in base of RA to Bundle of His in upper inter-ventricular septum down right and left bundle branches to their respective purkinje conduction pathways

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2
Q

purkinje, atrial muscle, ventricular muscle, AV node =

A

fastest to slowest conduction in heart

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3
Q

“Park at Venture Avenue”

A

fastest to slowest conduction in heart: purkinje fiber, atria, ventricle muscle, AV node)

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4
Q

bone side effect of corticosteroids

A

avascular necrosis

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5
Q

avascular necrosis XR finding

A

crescent sign, which indicates subchondral collapse

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6
Q

osteoarthritis XR findings

A

osteophytes and joint space narrowing

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7
Q

does osteoarthritis typically respond to OTC anaelgesics?

A

YES

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8
Q

what are the four bone diseases of renal osteodystrophy

A

hyperparathyroid bone disease, osteomalacia, mixed uremic osteodystrophy, and aplastic bone

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9
Q

osteopetrosis

A

inherited, bones become harder and more dense

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10
Q

paget’s disease

A

associated with osteosarcoma

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11
Q

substernal goiter

A

one or both thyroid lobes grow into the thoracic cavity inlet

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12
Q

explain the inflammatory process of gout crystals

A

normally have protective coating of apoE or B, but when exposed bare, become bound by IgG and inflammatory cells recruited

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13
Q

characteristic features of an arthritic joint

A

degeneration of articular cartilage, narrowing of joint space, bony outgrowths (osteophytes) at articular margins

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14
Q

endometriosis diagnosis?

A

NSAIDs for pain, hormonal contraceptives to control stimulation of tissue, and eventually possibly a laparoscopy for definitive diagnosis

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15
Q

leiomyomas

A

benign smooth muscle tumors characterized by a whorled pattern of smooth muscle bundles with intervening connective tissue

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16
Q

what is first-line medication for nausea and vomiting in pregnancy

A

B6/pyridoxine

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17
Q

vitamin A (retinol) terratogenic effects

A

microcephaly, cardiac anomalies, early epiphyseal closure, growth retardation, and spontaneous abortion

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18
Q

how can oseltamivir (tamiflu) shorten the course of influenza A and B infections when taken within 48 hrs of symptom onset?

A

inhibits neuramindases - normally the enzyme functions to cleave and release virions from infected cells so they can spread; results = accumulation of viral aggregates that are unable to infect new cells

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19
Q

influenza sx

A

fever, nonproductive cough, myalgias, clear lungs

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20
Q

ribavirin

A

inhibits viral RNA polymerase activity and RNA fragment initation and elongation; used in chronic HCV

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21
Q

BCL2

A

anti-apoptotic protein

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22
Q

what’s a way that follicular B cell lymphomas evade the immune system?

A

t(14;18) translocation that leads to BCL2 overexpression

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23
Q

this drug can be used to support diagnosis of the myasthnia gravis (Tensilon test)

A

edrophonium

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24
Q

location of M1

A

brain

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25
Q

location of M2

A

heart

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26
Q

location of M3

A

peripheral vasculature, lung, bladder, eyes, GI, skin

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27
Q

stimulation of M3

A

vasodilation, bronchoconstriction, contraction of detrusor muscle, miosis and accomodation, increased peristalsis and salivary and gastric secretions, increased sweat production

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28
Q

quaternary amine indirect cholinomimetics that CANNOT cross the BBB

A

edrophonium, neostigmine, pyridostigmine

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29
Q

cholinomimetics used for alzheimers

A

donepezil, galantamine, rivastigmine

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30
Q

atropine OD tx

A

physostigmine

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31
Q

heroine OD

A

CNS depression, seizures, pinpoint pupils

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32
Q

genetic polymorphism

A

gene exists in many forms (many alleles)

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33
Q

germ line mutation

A

mutation of sperm/egg; transmitted to offspring; every cell of body

34
Q

somatic mutation

A

not inherited but in all daughter cells of mutated cell

35
Q

co-dominance

A

both alleles contribute to phenotype; example = ABO blood types, for example AB express both A and B antigens

36
Q

AAT gene

A

a-1-antitrypsin; co dominance determines level of protein

37
Q

incomplete penetrance

A

not all patients with genotype will display disease features, often applied to AD disease; for example BRCA1 and BRCA2

38
Q

expressivity

A

variations in phenotype; good example = NF1 (100% penetrance but symptoms vary loads)

39
Q

pleiotropy

A

one gene = multiple phenotypic effects and traits; PKU, CF , marfan syndrome

40
Q

tumor suppressor genes

A

gate keeper, DNA repair; requires both alleles to be lost to develop CA

41
Q

classic example of two hit hypothesis for CA

A

retinoblastoma, HNPPC (Lynch Syndrome), FAP, Li Fraumeni; inherit one abnl copy through germline mutation then acquire another through somatic mutation

42
Q

mosaicism

A

gene differences in cells of same individual; individual is mixture of different cells

43
Q

somatic mosaicism

A

gene differences in tissues/organs; clinical phenotype varies depending on which tissue is affected

44
Q

Mcune Albright Syndrome

A

only able to survive with somatic mosaicism

45
Q

genetic heterogeneity

A

same phenotype from different genes/mutations (different mutation of same allele, different gene loci)

46
Q

allelic heterogenity

A

multiple mutations of multiple alleles at same loci causing same disease

47
Q

examples of allelic hetergeneity

A

beta thalassemia, CF

48
Q

locus heterogeneity

A

mutations on different loci and different chromosomes

49
Q

independent assortment

A

genes of homologous chromosomes will independently assort themselves

50
Q

recombination frequency

A

increase with distance of genes on chromosome, can be used to determine relative gene locations

51
Q

linkage

A

tendency of alleles to transmit together

52
Q

linkage disequilibrium

A

population frequencies higher/lower than expected

53
Q

linkage equilibrium

A

population frequencies

54
Q

goal of meiosis I

A

reductive division = diploid to haploid = separates homologous chromosomes

55
Q

aneuploidy

A

abnormal chromosome number

56
Q

meiotic nondisjunction

A

failure of separation in either meiosis 1 or 2, will result in aneuploidy

57
Q

meosis 1 nondisjunction

A

2 n with a chromosome from each mom and dad

58
Q

trisomy 18

A

edward syndrome

59
Q

trisomy 13

A

patau syndrome

60
Q

why is advanced maternal age associated with increased risk of trisomy?

A

maternal meiosis NDJ error are a common cause - begins prenatally, completed at ovulation years later leaving LOTS of room for error to occur

61
Q

robertsonian translocation

A

fusion of long arms of two chromosomes; occurs in chromosomes with centromere near end/acrocentric (13, 14, 21, 22)

62
Q

complication of robertsonian translocation?

A

trisomy babies, many failed and spontaneously, terminated pregnancies

63
Q

Hardy Weinberg Law

A

p + q = 1 ; p^2 + 2pq + q^2 = 1 ; p^2 is % of people in pop who are AA, 2pq is % of people in pop who are Aa

64
Q

Hardy Weinberg Law assumptions

A

large population, completely random mating, no mutations, no migration in/out of population, no natural selection = allele frequencies do not change from one generation to the next

65
Q

for very rare autosomal recessive diseases, what shortcut can be used to determine carrier frequency?

A

2q

66
Q

give examples of autosomal dominant diseases

A

familial hypercholesterolemia, huntington’s disease, marfan syndrome, hereditary spherocytosis, achondroplasia

67
Q

incomplete dominance

A

heterozygote phenotype different from homozygote; heterozygote less severe

68
Q

incomplete dominance ex//

A

achondroplasia - heterozygote = dwarfism whereas homozygous is fatal

69
Q

classic example of x-linked recessive

A

hemophelia A and B

70
Q

lyonization

A

inactivated X chromosome resulting in a Barr Body in a female; random selection cell to cell; results in X mosaicism

71
Q

classic example of x-linked dominant

A

fragile X syndrome

72
Q

heteroplasmy

A

when there is a mixture of nl and abnl mtDNA in each cell

73
Q

inheritance of mitochondrial DNA

A

from mother; if mom is homoplasmic then all children will have mutation, but if she has a mix of nl and abnl mtDNA (heteroplasmic) children inheritance is variable

74
Q

polygenic inheritance

A

traits/diseases that depend on multiple genes; do not follow classic mendelian pattern

75
Q

imprinting

A

epigenetic phenomenon that leads to different expression pattern than that of maternal/paternal genes

76
Q

classic imprinting syndromes

A

Prader-Willi and Angelmann syndromes - 15q11-q13, paternal copy abnormal = prader-willi

77
Q

prader-willi syndrome

A

loss of function of paternal copy of PWS gene on chromosome 15 and mother’s copy silenced by imprinting, resulting in complete suppression of PWS gene; obesity, hypotonia, hyperphagia and obesity, mild intellectual disability, delayed puberty

78
Q

angelmann syndrome

A

loss of function of UBE3A on chromosome 15 and father’s turned off by imprinting, resulting in complete suppression of gene; happy, seizures, ataxia, severe intellectual disability

79
Q

mosaicism

A

presence of multiple, genetically different cell lines within the body; can be classified as germline, somatic, or both; in germline mosaicism, the likelihood that future offspring will be affected by the same mutation depends on the proportion of mutant to wild-type germ cells in the mosaic parent

80
Q

penetrance

A

probability that a person with a given mutant genotype will exhibit the corresponding phenotype

81
Q

disorders of trinucleotide repeats

A

frequently demonstate anticipation

neuro (34 decks)

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