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genetics Flashcards

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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
location of M2
heart
26
location of M3
peripheral vasculature, lung, bladder, eyes, GI, skin
27
stimulation of M3
vasodilation, bronchoconstriction, contraction of detrusor muscle, miosis and accomodation, increased peristalsis and salivary and gastric secretions, increased sweat production
28
quaternary amine indirect cholinomimetics that CANNOT cross the BBB
edrophonium, neostigmine, pyridostigmine
29
cholinomimetics used for alzheimers
donepezil, galantamine, rivastigmine
30
atropine OD tx
physostigmine
31
heroine OD
CNS depression, seizures, pinpoint pupils
32
genetic polymorphism
gene exists in many forms (many alleles)
33
germ line mutation
mutation of sperm/egg; transmitted to offspring; every cell of body
34
somatic mutation
not inherited but in all daughter cells of mutated cell
35
co-dominance
both alleles contribute to phenotype; example = ABO blood types, for example AB express both A and B antigens
36
AAT gene
a-1-antitrypsin; co dominance determines level of protein
37
incomplete penetrance
not all patients with genotype will display disease features, often applied to AD disease; for example BRCA1 and BRCA2
38
expressivity
variations in phenotype; good example = NF1 (100% penetrance but symptoms vary loads)
39
pleiotropy
one gene = multiple phenotypic effects and traits; PKU, CF , marfan syndrome
40
tumor suppressor genes
gate keeper, DNA repair; requires both alleles to be lost to develop CA
41
classic example of two hit hypothesis for CA
retinoblastoma, HNPPC (Lynch Syndrome), FAP, Li Fraumeni; inherit one abnl copy through germline mutation then acquire another through somatic mutation
42
mosaicism
gene differences in cells of same individual; individual is mixture of different cells
43
somatic mosaicism
gene differences in tissues/organs; clinical phenotype varies depending on which tissue is affected
44
Mcune Albright Syndrome
only able to survive with somatic mosaicism
45
genetic heterogeneity
same phenotype from different genes/mutations (different mutation of same allele, different gene loci)
46
allelic heterogenity
multiple mutations of multiple alleles at same loci causing same disease
47
examples of allelic hetergeneity
beta thalassemia, CF
48
locus heterogeneity
mutations on different loci and different chromosomes
49
independent assortment
genes of homologous chromosomes will independently assort themselves
50
recombination frequency
increase with distance of genes on chromosome, can be used to determine relative gene locations
51
linkage
tendency of alleles to transmit together
52
linkage disequilibrium
population frequencies higher/lower than expected
53
linkage equilibrium
population frequencies
54
goal of meiosis I
reductive division = diploid to haploid = separates homologous chromosomes
55
aneuploidy
abnormal chromosome number
56
meiotic nondisjunction
failure of separation in either meiosis 1 or 2, will result in aneuploidy
57
meosis 1 nondisjunction
2 n with a chromosome from each mom and dad
58
trisomy 18
edward syndrome
59
trisomy 13
patau syndrome
60
why is advanced maternal age associated with increased risk of trisomy?
maternal meiosis NDJ error are a common cause - begins prenatally, completed at ovulation years later leaving LOTS of room for error to occur
61
robertsonian translocation
fusion of long arms of two chromosomes; occurs in chromosomes with centromere near end/acrocentric (13, 14, 21, 22)
62
complication of robertsonian translocation?
trisomy babies, many failed and spontaneously, terminated pregnancies
63
Hardy Weinberg Law
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
Hardy Weinberg Law assumptions
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
for very rare autosomal recessive diseases, what shortcut can be used to determine carrier frequency?
2q
66
give examples of autosomal dominant diseases
familial hypercholesterolemia, huntington's disease, marfan syndrome, hereditary spherocytosis, achondroplasia
67
incomplete dominance
heterozygote phenotype different from homozygote; heterozygote less severe
68
incomplete dominance ex//
achondroplasia - heterozygote = dwarfism whereas homozygous is fatal
69
classic example of x-linked recessive
hemophelia A and B
70
lyonization
inactivated X chromosome resulting in a Barr Body in a female; random selection cell to cell; results in X mosaicism
71
classic example of x-linked dominant
fragile X syndrome
72
heteroplasmy
when there is a mixture of nl and abnl mtDNA in each cell
73
inheritance of mitochondrial DNA
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
polygenic inheritance
traits/diseases that depend on multiple genes; do not follow classic mendelian pattern
75
imprinting
epigenetic phenomenon that leads to different expression pattern than that of maternal/paternal genes
76
classic imprinting syndromes
Prader-Willi and Angelmann syndromes - 15q11-q13, paternal copy abnormal = prader-willi
77
prader-willi syndrome
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
angelmann syndrome
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
mosaicism
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
penetrance
probability that a person with a given mutant genotype will exhibit the corresponding phenotype
81
disorders of trinucleotide repeats
frequently demonstate anticipation

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