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Genetics II Flashcards

1
Q

Cancer of the eye, retina

A

Retinoblastoma

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2
Q

Mutation in RB1, chromosome 13

A

Retinoblastoma

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3
Q

Retinoblastoma is due to mutation in gene —- in chromosome —-

A

Gene RB1, chr 13

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4
Q

This protein, causing retinal cancer, is a regulator of the ——— phase transition. When mutated we cannot stop the transcription factors

A

G1 to S phase of cell cycle

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5
Q

Hyperphosphorylated Rb

A

Inactive

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6
Q

Hypophosphorylated Rb

A

Active

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7
Q

When Rb is not phosphorylated, it is actuve and binds to ——, preventing it from letting the cell to go from —- to —-

A

ef2, G1 to S

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8
Q

——-++ phosphorylates Rb, thereby it gets inactivated and cannot bind ——

A

Cyclin dependent kinase K2, ef2 so Ef2 allows cell to go to S phase.

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9
Q

How do you Dx retinoblastoma in a baby?

A

Look for the RED/ORANGE reflex in his retina, also look for the CORNEAL LIGHT reflex which is a symmetrical reflection. Of the beam of light.

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10
Q

Leukocoria. Deteriorating vision, irritation of the eye, glaucoma, strabismus, enlargement of the eye in advanced cases

A

Retinoblastoma in children

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11
Q

White appearance of the eye

A

Leukocoria

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12
Q

Mutation in FB1 gene, chromosome 15

A

Marfan

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13
Q

Marfan is due to mutation in gene ——- in chromosome ——

A

Gene FB1, Chromosome 15

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14
Q

Mutation in marfan code for —— glycoprotein

A

Fibrillin -1, a component of the extra cellular matrix, ECM

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15
Q

What is the role of fibrillin 1 protein?

A

Stores TGF beta and is essential for the elasticity of the fibers in the body

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16
Q

Thoracic aneurysm or dilated aorta are found in the cardiovascular system of these patients

A

Marfan

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17
Q

Findings in the lungs of marfan patients

A

Spontaneous pneumothorax is common

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18
Q

Duran ectasia is common in

A

Marfan syndrome

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19
Q

Weakening of the connective tissue of Duran sac, painful, lowers quality of life in

A

Marfan syndrome

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20
Q

Lens dislocation in marfan

A

Superior - they cannot look down

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21
Q

In lumbar region, the Dúrcal sac weakens and bulges out, causing lower back pain

A

Dural ectasia

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22
Q

5 disease that look like marfan, marfanoid habitus

A 
Homocystinuria
EHlers danlos
Congenital contractural arachnodactylia
Stickler Syndrome 
MEN 2b
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23
Q

Inferior subluxation

A

Homocystinuria

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24
Q

In inferior subluxation, the person cannot look

A

Up.

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25
Q

Methionine metabolism problem, inferior subluxation, marfanoid habitus, precuts excavatum, scoliosis

A

Homocystinuria

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26
Q

Lysyl oxidase or procollagen peptidase deficiency

A

Ehlers danlos

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27
Q

Triad of Men 1

A

Pituitary adenoma, parathyroid hyperplasia, pancreatic tumor

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28
Q

Triad of Men 2a

A

Parathyroid hyperplasia, medullary thyroid carcinoma, and pheochromocytoma

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29
Q

Triad in Men 2b

A

Marfanoid habitus , pheochromocytoma, medullary thyroid carcinoma, and mucosal neuromas

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30
Q

Deficiency (quantitative or qualitative) in type 1 collagen

A

Osteogenesis imperfecta

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31
Q

Glycine replaced by bulky aa

A

O.I.

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32
Q

Bone fragility, spinal curvatura, loose joints, por muscle tone, blue sclera , hearing loss

A

O.I.

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33
Q

What are the veins seen under the blue sclera?

A

Choroidal veins

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34
Q

Hereditary hemorrhagic telangiectasia

A

Osler, Weber, Rendu Syndrome

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35
Q

Arteriovenous malformation (tangle f vessels) or telangiectasias in the skin, and mucous membranes of lips, orophraynx, respiratory tract, GI tract, urinary tract, also in liver, brain, or spleen,

A

Osler Weber rendu syndrome

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36
Q

Tangle of vessels whose rupture leads to epistaxis, GI bleeding and hematuria

A

Osler Weber rendu Syndrome

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37
Q

A person with many large red spots on the tongue, epistaxis and hematuria. Dx?

A

Osler Weber rendu Syndrome

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38
Q

Familial hypercholesterolemia mutation gene?chromosome?

A

LDL R

Chromosome 19

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39
Q

Main findings in familial hypercholesterolemia

A

Xanthelasma and tendon xanthomas

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40
Q

High risk of atherosclerosis leading to CAD

A

Familial hypercholesterolemia

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41
Q

Young patient with no atherosclerosis history, but disease in family members. He exercises, does not smoke, his father has stroke at 40. Uncle lost leg to peripheral disease at 43.

A

Familial hypercholesterolemia

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42
Q

Inheritance of familial hypercholesterolemia

A

Autosomal dominant

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43
Q

Trinucleoride repeat in Huntington’s disease

44
Q

Huntington is a mutation in gene ——
Chromosome ——-
Repeat ——

A

Gene HD/ HTT gene
Chromosome 4
Repeat is CAG

45
Q

Caudate love atrophy is hall ark of this disease

A

Huntington’s disease

46
Q

Inheritance of Huntington’s disease

A

Autosomal dominant, presents anticipation

47
Q

The repeat on Huntington is —— and encodes for ——- aa

A

CAG

Encodes for glutamine

48
Q

Polyglutamine tract. Disease?

A

Huntington.

49
Q

Protein coded for by Huntington’s disease mutated gene

A

Huntingtin

50
Q

Subtle personality changes, muscle rigidity, writhing motions, chorea restlessness, absnormal facial expressions, loss of planning, loss of abstract thinking, short term and long term memory dementia eventually, anxiety, depression, blunted affect

A

Huntington

51
Q

In Huntington kids have —- to —- % chance of getting disease.

52
Q

Age of onset for Huntington disease

A

30 to 40 years old

53
Q

Management of Huntington disease

A

CNS depressants

54
Q

Young guy who ran marathon today and at night comes to Er saying he cannot move. Muscle weakness/paralysis most commonly seen in hips or shoulders but may be seen elsewhere. Lasts hours to several days. Had a meal rich in carbs after the marathon. And some alcohol but not much,
Labs show very low levels of potassium in blood,

A

Hypokalemic periodic paralysis

55
Q

Guy who ran marathon, comes to ER because he cannot move legs. Had alcohol. Low levels on potassium in blood. Gene affected?

A

CACNA 15 tipo 1

SCN4A tipo 2

56
Q

Gene CACNA 15 codes for what?

A

Voltage gated Calcium channel in transverse tubules of muscle.

57
Q

Gene SCN4A codes for what?

A

Voltage gated Sodium channel in neuromuscular junction

58
Q

What causes paralysis in Hypokalemic Periodic Paralysis ?

A

Themuscle cannot contract well because of a problem with the calcium channel. There is improper repolarization. So hypokalemic ensues and paralysis.

59
Q

Attacks begin in adolescence. Attacks often occur after exercise, triggers are ETOH, high carb or sodium meals, sx last hours or days.

A

HPP - hypokalemic periodic paralysis

60
Q

Scan shows modular kidneys, cystic liver

61
Q

Gene and chromosome ADPKD

A

PKD 1, 2 and 3, chromosome 16, protein regulates cell cycle and intracellularctransport of calcium in epithelial cells

62
Q

Back pain, flank pain, cystic enlargement of kidneys, UTI, renal colic, nephrolithiasis

63
Q

Mutations in three genes, PKD 1, 2 and 3 lead to similar disease. The disease is called —— and the phenomenon is called ——

A

ADPKD, Locus heterogeneity

64
Q

Two proteins mutated, —— and ——-. Jaundice, hemolytic anemia y splenomegaly.

A

Ankyrin, spectrin, Hereditary Spherocytosis

65
Q

Role of Spectrin

A

Scaffolding, maintains integrity of plasma membrane.

66
Q

Role of ankyrin

A

Attaches integral membrane proteins to spectrin-actin membrane skeleton, if missing, Rbc vulnerable to sequestration by the spleen.

67
Q

Sphere shaped cells, red blood cells small, no central pallor, rericulocytosis

A

Hereditary Spherocytosis

68
Q

How to Dx Hereditary Spherocytosis?

A

Osmotic fragility test.

69
Q

What does the osmotic fragility test shows?

A

Shows you how soon red blood cells lyse, at what osmolarity do they lyse compared to the osmolarity at which normal cells begin to lyse. The sick one lyse much much sooner.

70
Q

GNACgene, chromosome 9

A

Sturge Weber Syndrome

71
Q

Neuro oculocutaneous syndrome, embryonic development anomaly, errors in mesodermal and ectodermal development, wine colored stain in forehead and upper eyelid of one side of face of entire face.

A

Sturge Weber Syndrome

72
Q

Seizures beginning in infancy, Malformation of blood vessels in Pía mater, muscle weakness in one side of the body, 50% develop glaucoma

A

Sturge Weber Syndrome

73
Q

Tuberous sclerosis inheritance

A

Autosomal dominant

74
Q

Hypokalemic periodic paralysis inheritance

A

Autosomal dominance

75
Q

Patients presents with hamartias (malformed tissues ), hamartomas ( benign growths) and
Seizures,

A

Tuberous sclerosis

76
Q

Ash leaf spots

A

Tuberous sclerosis

77
Q

Mutation in tuberous sclerosis

A

Gene TSC 1 and TSC 2, code for protein called Hamartin and Tuberin

78
Q

Proteins affected in Tuberous sclerosis

A

Hamartin y Tuberin

79
Q

Tumors in heart, kidneys, eyes, lungs, skin and or brain in autistic child

A

Tuberous sclerosis

80
Q

Woods lamp helps to identify it in patients with fair skin

A

Ash leaf spots of tuberous sclerosis

81
Q

Bilateral renal angiomyolipoma, associated gene?

82
Q

Multiple Subcutaneous nodules, cannot shave them off

A

Neurofibromatosis

83
Q

Cafe au lait spots, six or more.

Hamartomas of the iris, optic nerve tumor

A

Von recklinhousen disease, or Tyoe 1 neurofibromatosis disease

84
Q

NF-1 gene, chromosome 17

A

Neurofibromatosis Type 1 - Von recklingbausen

85
Q

Tendency for nodules underthe skin to decend when gentle pressure is applied

A

Buttonholing seen in neurofibromatosis Von reckinghausen disease.

86
Q

Hamartomas of the Iris are called

A

Lish nodules, seen in neurofibromatosis disease Von recklinghausen

87
Q

Uncontrolled, erratic growth of neurofibromas

A

Type 1 neurofibromatosis, vonrecklinghausen

88
Q

Central neurofibromatosis, gene? Chromosome?

A

Gene NF-2, chromosome 22

89
Q

Which neurofibromatosis inhibits the p21 ras oncoprogetein?

A

Type 1 neurofibromatosis, Von Recklinghausen disease.

90
Q

Which neurofibromatosis inhibits a tumor suppressor protein?

A

Type 2, central neurofibromatosis

91
Q

MERLÍN protein mutation

A

Type 2, NF-2 gene, neurofibromatosis central,

92
Q

Bilateral acoustic neuromas,

93
Q

Bilateral acoustic neuromas are a CN— tumor, aka schwanomas, located usually at the ———— angle.

A

CN8

Cerebro pontine angle

94
Q

Deafness, tinnitus, problema with balance, headache, facial weakness/paralysis, loss of taste in the anterior 2/3 of tongue

A

Neurofibromatosis Type 2, central, chromosome 22, NF-2

95
Q

Sensorineural hearing loss and tinnitus hints a a compression of what ?

96
Q

Disequilibrium, vertigo and nystagmus hint at a compression of what?

A

Vestibular compression (vestibule)

97
Q

Loss of sensation around mouth and nose, loss of corneal reflex, paralysis of muscles of mastication hints at compression of what nerve?

A

Compression of CN5

98
Q

Increased risk of ependimomas and meningiomas

A

Neurofibromatosis Type 2, central
NF-2
chromosome 22

99
Q

Chronic, slowly porgressive muscle disease, wasting and weakness of muscles, myotonia (prolongues contractions), cardiovascular disturbances, endocrinopathies, visual disturbances.

A

Myotonic dystrophy

100
Q

Myotonic dystrophy inheritance mode?

A

Autosomal dominant

101
Q

myotonic dystrophy genes affected? 2

A

MD1 is gene DMPK, repeat CTG

MD2 is gene CNPB. Repeat CCTG

102
Q

cTG repeat is on chromosome

A

Type 1 Myotonic Dystrophy - Steinerts disease
Chromosome 19
Gene DMPK

103
Q

cCTG repeat is on chromosome

A

Chromosome 3, type 2 Myotonic dystrophy, called PROMM, repeat CCTG
Gene CNPB

104
Q

Muscle weakness in face, neck, hands, lower legs

A

Type 1 Myotonic Dystrophy- steinerts disease, chromosome 19, repeat CTG
Gene DMPK

105
Q

Muscle weakness in hips, elbows, shoulders and neck

A

Type 2 Myotonic Dystrophy- PROMM
Chromosome 3,
Repeat CCTG
Gene CNPB

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