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COMLEX/USMLE 1 > GENETICS/GENES > Flashcards

GENETICS/GENES Flashcards

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USMLE® Step 1 flashcards
1
Q

AD
CAG Trinucleotide repeat
HTT gene on Chrom 4
athetosis (shaking wrist/hands), chorea, dementia

A

Huntington’s disease- GABA neuron deficiency in caudate nucleus of BG

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2
Q

ATP7B gene
copper (Cu2+) accumulation in brain, kidneys, liver, eye (kayser-fleischer ring)
-DEFECT IN EXRCRETION OF COPPER INTO BILE

A

Wilson’s disease

*TOTAL COPPER levels are DECREASED
*CERULOPLASMIN DECREASE

*FREE COPPER LEVELS ARE INCREASED!!!

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3
Q

Prion disease
abnormal folding proteins in B pleated sheets
rapidly progressing dementia
ataxic
myoclonic

A

Creutzfeldt-Jakob disease

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4
Q

what is the pathogenesis of Lewy body dementia?
(visual hallucinations, parkinsonism, fluctuating consciousness, REM sleep disorder)

A

-Alpha -synuclein aggregates (lewy bodies)

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5
Q

what is the pathogenesis of Wenicke encephalopathy/Korsakoff syndrome?
Chronic alcohol abuse
W: ataxia, horizontal nystagmus, lateral rectus palsy, confusion
K: severe memory impairment, retrograde/anterograde, confabulation

A

-atrophy of mammillary bodies

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6
Q

what is the path of MS?
(visual disturb, ataxia, GI/urinary probs, weakness, sens/neuro probs)

A

-AI destruction of myelin and oligodendrocytes

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7
Q

what disease is excessive daytime sleepy, cataplexy, hallucinations, sleep paralysis with decreased orexins (hypocretins) in lateral hypothalamus?

A

Narcolepsy

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8
Q

AR
disease with absent DNA repair enzymes and increased incidence of UVB related skin cancers

A

Xeroderma pigmentosum

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9
Q

MC vitamin def in alcoholics?

A

folate

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10
Q

MC metal def in alcoholics?

A

magnesium

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11
Q

what vitamin is associated with pyruvate dehydrogenase?

A

thiamin

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12
Q

what happens to the other kidney if one is damaged?

A

it undergoes hypertrophy

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13
Q

what vit toxicity decreases the levels of Vit k factors, increases incidence of hemorrhagic strokes, and potentiates the action of warfarin?

A

Vitamin E

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14
Q

carboxylase reaction in conversion of pyruvate –> oxaloacetate?

A

Biotin reaction

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15
Q

-Cherry red macula

A

Tay Sachs disease

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16
Q

transamination reactions involving transaminases AST and ALT?

A

pyridoxine B6

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17
Q

what inhibits ADH release, ATII effect on stimulating thirst, aldosterone secretion, renal absorption of Na (direct effect, Na loss in urine), inhibits renal release, and vasodilator the peripheral resistance vessels?

A

Atrial Natriuretic Peptide (ANP)

**complete opposite of Angiotensin II

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18
Q

what is the chance of a male with cystic fibrosis to have a child?

A

less than 5%, since vas deferent never fully develop/are atretic

-females with CF can get pregnant but it is difficult w the thick cervical mucus

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19
Q

what are the vitamin supplements in CF?

A

all of the fat soluble vitamins (A, D, E, K)

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20
Q

Woman is a pure vegan, is breastfeeding her baby, and baby develops anemia?

A

B12 deficiency

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21
Q

-attaches to CD21 molecule in B cells

A

Ebstein Barr Virus

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22
Q

what syndrome is hypogonadism, mental retardation, and unilateral gynecomastia?

A

Klinefelter syndrome (XXY)

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23
Q

what syndrome is hypogonadism, absent GnRH, smell problems (anosmia), and color blindness?

A

Kallman syndrome (hypogonadotrophic hypogonadism)

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24
Q

what syndrome is hypogonadism, mental retardation, retinas pigmentosum?

A

Lawrence Moon Biedl syndrome

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25
Q

what syndrome is AD PTPN11 gene problem in RAS-MAPK pathway, hypogonadism, mental retardation, short stature, webbed neck?

A

Noonan syndrome

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26
Q

what syndrome is Chrom 15 MICROdeletion of paternal origin, hypogonadism, mental retardation, short stature, obesity

A

Prader-Willi (angelman is deletion of a maternal origin)

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27
Q

patient with neurofibromatosis has severe diastolic hypertension?

A

probable pheochromocytoma

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28
Q

complications of cyclophosphamide?

A

hemorrhagic cystitis and transitional carcinoma of the bladder

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29
Q

*employees working in car assembly plant w HA/N/V, muscle weakness, abd cramps

**or people making moonshine in an old car radiator

A

Lead poisoning from incineration of batteries

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30
Q

what syndrome is a newborn female that has edema of hands/feet, cystic mass in neck, with 45 XO karyotype?

A

Turners syndrome

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31
Q

what vitamin is absent in colostrum (baby first milk)

A

Vitamin D

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32
Q

low in folate, B6, iron
high in potassium, chloride, arach acids, linoleum acids

A

Baby getting anemia from switching from cows milk –> goats milk

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33
Q

retinal hemorrhages in young children?

A

possible child abuse–> shaking syndrome

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34
Q

what bite is multiple wheals that later develop into vesicles/pustules?

A

Fire ant bites

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35
Q

what bite is PAINFUL, followed by crampy pain in thighs/abdomen ?

**carrying logs from outside, moving boxes in basement

A

Black widow bite

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36
Q

what is PAINFUL STING, followed by local itching, paresthesias, N/V, HTN?

A

poisonous type of scorpion bite in southwest

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37
Q

what bite is PAIN-LESS beginning with slightly tender red papular lesion on arm that later form a hemorrhagic blister with purpura?

A

Brown recluse spider bite

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38
Q

what bites are extremely itchy, bright red papules on legs and around waist?

A

Chigger bites

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39
Q

what disease is more likely to infect the fetus after the first trimester?

A

Syphilis

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40
Q

THC metabolites in urine after dying in accident?

A

delayed reaction time, impairs the persons ability to judge speed and distance

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41
Q

What is caused by vinyl chloride, arsenic, and thorotrast?

A

Angiosarcoma of the liver

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42
Q

Female pseudohermaphrodite with ^ ACTH, ^ urine 17-ketosteroids, LOW cortisol, LOW urine 17-hydroxycorticoids

A

21-hydroxylase deficiency

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43
Q

Female pseudohermaphrodite with ^ ACTH, ^ urine 17-ketosteroids, ^ 17-hydroxycorticoids, LOW cortisol

A

11-hydroxylase deficiency

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44
Q

MALE pseudohermaphrodite with ^ ACTH, LOW urine 17-ketosteroids, LOW urine 17-hydroxycorticoids, LOW cortisol

A

17-hydroxylase deficiency

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45
Q

what syndrome has LOW AFP?

A

downs syndrome

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46
Q

what tumor marker leads to hepatocellular carcinoma, germ cell tumors (yolk sac), testicular/ovarian cancer?

A

AFP/AAT

47
Q

what tumor marker leads to multiple myeloma, light chains in urine (BJ protein)?

A

B2-microglobulin

48
Q

what tumor marker leads to small cell carcinoma of lung, neuroblastoma?

A

Bombesin

49
Q

what tumor marker leads to breast cancer?

A

CA 15-3

50
Q

what tumor marker leads to pancreatic cancer?

A

CA 19-9

51
Q

what tumor marker leads to ovarian cancer?

A

CA 125

52
Q

what tumor marker leads to colorectal, pancreatic, breast, Small cell canc of lung, and BAD prognostic sign if elevated peroperatively?

A

CEA

53
Q

what tumor/disease is assoc with oncogenic RNA virus HTLV-1?

A

Adult T Cell Leukemia/Lymphoma

54
Q

what tumor/disease is assoc with oncogenic RNA virus HTLV-2?

A

Hairy Cell Leukemia

55
Q

what tumor/dz is assoc with oncogenic RNA virus HCV and oncogenic DNA virus HBV?

A

hepatocellular carcinoma

56
Q

what tumor/dz is assoc with oncogenic DNA virus EBV?

A

Burkitt’s, nasopharyngeal carc, polyclonal malignant lymphoma

57
Q

what tumor/dz is assoc with oncogenic DNA virus HPV?

A

SCC of cervix, vag, vulva, anus

58
Q

what tumor/dz is assoc with oncogenic DNA virus HSV8?

A

Kaposi’s sarcoma

59
Q

-zebra bodies in lysosomes

A

Niemann pick disease

60
Q

what disease is DEC protein intake but NORMAL total caloric intake, fatty liver from dec apolipoproteins, pitting edema, flaky pain dermatitis?

A

Kwashiorkor

61
Q

what disease is decreased total caloric intake, loss of muscle mass?

A

marasmus

62
Q

Craniotabes, rachitic rosary, increase in unmineralized osteoid

A

Rickets

63
Q

gene products E6 and E7 in HPV infections inhibit what gene leading to cancer?

A

P53 suppressor gene

64
Q

what metalloenzyme aids tumor invasion of tissue?

A

collagenase with Zn as a cofactor

65
Q

-X linked
most common genetic cause of mental retardation in males, triplet repeat, macroorchidism at puberty

A

Fragile X

66
Q

what is the gene mutation in Cri du chat?
-mental retardation, cry like a cat, relation with VSD

A

deletion of short arm on chromosome 5

67
Q

AD
fibrillin defect in elastic tissue
MVP with sudden death
dissection is MCC of death
dislocated lens

A

Marfan’s syndrome

68
Q

NF 1/2, AD
brain tumors: meningioma, acoustic neuroma, pheochromocytoma

Cafe au lait spots, Lisch nodules (hamartomas in iris)

A

Neurofibromatosis

69
Q

AD
cerebellar hemangioblastomas
acoustic neuroma
pheochromocytoma
renal adenocarcinoma

A

Von hippel Lindau

70
Q

Burkitts lymphoma is what translocation

A

t8:14

71
Q

Chronic myelogenous leukemia is what translocation

A

t9:22

72
Q

follicular B cell lymphoma is what translocation

A

bcl-2
t14:18

73
Q

what renal acidosis is:
Normal AG metabolic acidosis
Aldosterone mediated proton pump in CD is dysfunctional
-cant secrete H, regenerate bicarb, urine >5.5

A

Type 1 Renal tubular acidosis (distal)

74
Q

what renal acidosis is:
Normal AG metabolic acidosis
-lower the threshold for bicarb, initially urine ph >5.5, and then when equilibrium is reached, urine ph <5.5

A

Type 2 Renal Tubular acidosis (proximal)

75
Q

what is the best initial screen for temporal arteritis?

A

ESR

76
Q

benign adenoma in zona glomerulosa
-LOW renin HTN
-LOW (severe) hypokalemia
-normal to increased serum Na
-no pitting edema
-muscle weakness, U waves
-Metabolic alkalosis

A

Primary Aldosteronism (conn)

77
Q

Increase PaCO2
Decrease PaO2 and SaO2

A

Respiratory Acidosis

78
Q

Normal PaO2 and SaO2
Decreased Hb concentration

A

Anemia

79
Q

what causes Pneumococcus infection in HbSS?

A

autosplenectomy/ or functional asplenia

80
Q

What vessels are involved in esophageal varices?

A

Left gastric vein
Azygous vein

81
Q

How to DX rotavirus?

A

Rotazyme test of stool
ELISA test with Antibodies against virus

82
Q

Tx of astrocytoma?

A

Radiation

83
Q

when you remove the ovaries or testes, what enzymes are increased?

A

FSH and LH

84
Q

Hypernatremia
very dilute urine
thirsty, polyuria

*CDI IS CORRECTED WITH VASOPRESSIN
*NDI NOT CORRECTED WITH VASOPRESSIN

A

diabetes insipidus

85
Q

MCC of rabies in USA

A

skunk bites

86
Q

osteophytes in DIP joints in OA are called

A

Heberden’s nodes

87
Q

flask shaped ulcers in the cecum

A

Amebiasis

88
Q

Anti-pulmonary antibodies
Anti-glomerular capillary BM antib
-begins with hemoptysis, ends with renal failure
**CRESCENTIC GLOMERULONEPHRITIS
*linear immunofluorescence

A

Goodpastures syndrome

89
Q

MCC of post transfusion hepatitis

A

HCV

90
Q

MCC of septic arthritis

A

N. gonorrhea, knees/wrist/feet

91
Q

Rust colored sputum

A

S. pneumo

92
Q

MC cyanotic CHD
*degree of infravalvular pulmonary stenosis is key to whether patient has cyanosis/acyanotic

A

Tetralogy of fallot

93
Q

abdominal abscess MC due to

A

B. fragilis below diaphragm
B. melanogenicus above diaphragm

94
Q

AD
mental retardation, astrocyte hamartomas in CNS
*candlestick drippings on ventricles
-adenoma sebaceous, angiomyolipoma of kidneys, rhabdomyoma of heart

A

Tuberous Sclerosis

95
Q

Protein A attaches to Fc receptor of Macrophages, blocks opsonization of bacteria

A

Staph Aureus

96
Q

AD
-INC ALA synthase when heme is decreased
-decreased activity of uroporphyrinogen synthase
-INC IN S -AMINOVULIN. ACID, PORPHOBILINOGEN, PSYCHOSIS, COLICKY ABD PAIN (frequently mistaken for surgical emergency- “belly full of scars”)

A

Acute intermittent Porphyria (AIP)

97
Q

acquired disease
decreased activity of uroporphyrinogen DECARBOXYLASE
-INC excretion of UROPORPHYRIN I
-normal porphobilinogen levels
-photosens skin lesions in sun exposed areas
-hyperpigmentation, fragile skin
-inc vellus hair (hypertrichosis)

A

Porphyria Cutanea Tarda (PCT)

98
Q

-pharygitis predisposes to RF
-skin infections predispose to glomerulonephritis

what bacteria?

A

S. Pyogenes (GAS)

99
Q

upper urinary tract infection in females with a vesicoureteral reflux

A

Acute pyelonephritis

100
Q

resting tremor

A

parkinsons disease

101
Q

intention tremor

A

multiple sclerosis

102
Q

same as ALS
destruction of upper and lower motor neurons
-defective superoxide dismutase
-neuron damage by superoxide free radicals
-intrinsic muscles of hand is common starting point

A

Lou Gehrig’s disease

103
Q

MCC of CHD in downs syndrome

A

Endocaridal cushion defect (ASD + VSD)

*alzheimers mc death after age 35 in downs

104
Q

AD
berry aneurysm relationship and subarachnoid hemorrhage
-cysts not present at birth
-HTN

A

adult polycystic kidney disease

105
Q

HLA B27 positive
*young man with low back pain progressing to bamboo spine, aoritits/uveitits

(other relationships- Reiter’s syndrome, psoriasis, Enterocolitis, UC

A

Anklyosing Spondylitis

106
Q

chrom 22 with bcr:abl fusion
Chronic myelogenous leukemia

A

Philadelphia chromosome

107
Q

cause of familial hypercholesterolemia

A

AD disease with absent LDL receptor

108
Q

what is the defect in B chain in sickle cell trait/disease?

A

Valine for Glutamic Acid in 6th position of B chain

109
Q

pathognomic lesion of rheumatic fever

A

Aschoff body

110
Q

rheumatoid arthritis will have what positive tests

A

rheumatoid factor, anti cyclic citrulinated peptide ab

111
Q

dermatomyositis/polymyositis will have what positive tests

A

anti nuclear ab, anti Jo 1 ab

112
Q

diffuse systemic sclerosis will have what positive tests

A

anti nuclear ab, antitopisosmerase I (Scl-70 ab)

113
Q

sjogren syndrome will have what positive tests

A

anti nuclear ab, anti SSA/Ro, anti SSB/La ab

114
Q

SLE will have what positive tests

A

antinuclear ab
anti DS-DNA ab
anti Smith Ab

COMLEX/USMLE 1 (17 decks)

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