Genetics II Flashcards
(105 cards)
1
Q
Cancer of the eye, retina
A
Retinoblastoma
2
Q
Mutation in RB1, chromosome 13
A
Retinoblastoma
3
Q
Retinoblastoma is due to mutation in gene —- in chromosome —-
A
Gene RB1, chr 13
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
5
Q
Hyperphosphorylated Rb
A
Inactive
6
Q
Hypophosphorylated Rb
A
Active
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
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.
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.
10
Q
Leukocoria. Deteriorating vision, irritation of the eye, glaucoma, strabismus, enlargement of the eye in advanced cases
A
Retinoblastoma in children
11
Q
White appearance of the eye
A
Leukocoria
12
Q
Mutation in FB1 gene, chromosome 15
A
Marfan
13
Q
Marfan is due to mutation in gene ——- in chromosome ——
A
Gene FB1, Chromosome 15
14
Q
Mutation in marfan code for —— glycoprotein
A
Fibrillin -1, a component of the extra cellular matrix, ECM
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
16
Q
Thoracic aneurysm or dilated aorta are found in the cardiovascular system of these patients
A
Marfan
17
Q
Findings in the lungs of marfan patients
A
Spontaneous pneumothorax is common
18
Q
Duran ectasia is common in
A
Marfan syndrome
19
Q
Weakening of the connective tissue of Duran sac, painful, lowers quality of life in
A
Marfan syndrome
20
Q
Lens dislocation in marfan
A
Superior - they cannot look down
21
Q
In lumbar region, the Dúrcal sac weakens and bulges out, causing lower back pain
A
Dural ectasia
22
Q
5 disease that look like marfan, marfanoid habitus
A
Homocystinuria EHlers danlos Congenital contractural arachnodactylia Stickler Syndrome MEN 2b
23
Q
Inferior subluxation
A
Homocystinuria
24
Q
In inferior subluxation, the person cannot look
A
Up.
25
Methionine metabolism problem, inferior subluxation, marfanoid habitus, precuts excavatum, scoliosis
Homocystinuria
26
Lysyl oxidase or procollagen peptidase deficiency
Ehlers danlos
27
Triad of Men 1
Pituitary adenoma, parathyroid hyperplasia, pancreatic tumor
28
Triad of Men 2a
Parathyroid hyperplasia, medullary thyroid carcinoma, and pheochromocytoma
29
Triad in Men 2b
Marfanoid habitus , pheochromocytoma, medullary thyroid carcinoma, and mucosal neuromas
30
Deficiency (quantitative or qualitative) in type 1 collagen
Osteogenesis imperfecta
31
Glycine replaced by bulky aa
O.I.
32
Bone fragility, spinal curvatura, loose joints, por muscle tone, blue sclera , hearing loss
O.I.
33
What are the veins seen under the blue sclera?
Choroidal veins
34
Hereditary hemorrhagic telangiectasia
Osler, Weber, Rendu Syndrome
35
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,
Osler Weber rendu syndrome
36
Tangle of vessels whose rupture leads to epistaxis, GI bleeding and hematuria
Osler Weber rendu Syndrome
37
A person with many large red spots on the tongue, epistaxis and hematuria. Dx?
Osler Weber rendu Syndrome
38
Familial hypercholesterolemia mutation gene?chromosome?
LDL R
| Chromosome 19
39
Main findings in familial hypercholesterolemia
Xanthelasma and tendon xanthomas
40
High risk of atherosclerosis leading to CAD
Familial hypercholesterolemia
41
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.
Familial hypercholesterolemia
42
Inheritance of familial hypercholesterolemia
Autosomal dominant
43
Trinucleoride repeat in Huntington’s disease
CAG
44
Huntington is a mutation in gene ——
Chromosome ——-
Repeat ——
Gene HD/ HTT gene
Chromosome 4
Repeat is CAG
45
Caudate love atrophy is hall ark of this disease
Huntington’s disease
46
Inheritance of Huntington’s disease
Autosomal dominant, presents anticipation
47
The repeat on Huntington is —— and encodes for ——- aa
CAG
| Encodes for glutamine
48
Polyglutamine tract. Disease?
Huntington.
49
Protein coded for by Huntington’s disease mutated gene
Huntingtin
50
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
Huntington
51
In Huntington kids have —- to —- % chance of getting disease.
40 to 50%
52
Age of onset for Huntington disease
30 to 40 years old
53
Management of Huntington disease
CNS depressants
54
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,
Hypokalemic periodic paralysis
55
Guy who ran marathon, comes to ER because he cannot move legs. Had alcohol. Low levels on potassium in blood. Gene affected?
CACNA 15 tipo 1
| SCN4A tipo 2
56
Gene CACNA 15 codes for what?
Voltage gated Calcium channel in transverse tubules of muscle.
57
Gene SCN4A codes for what?
Voltage gated Sodium channel in neuromuscular junction
58
What causes paralysis in Hypokalemic Periodic Paralysis ?
Themuscle cannot contract well because of a problem with the calcium channel. There is improper repolarization. So hypokalemic ensues and paralysis.
59
Attacks begin in adolescence. Attacks often occur after exercise, triggers are ETOH, high carb or sodium meals, sx last hours or days.
HPP - hypokalemic periodic paralysis
60
Scan shows modular kidneys, cystic liver
ADPKD
61
Gene and chromosome ADPKD
PKD 1, 2 and 3, chromosome 16, protein regulates cell cycle and intracellularctransport of calcium in epithelial cells
62
Back pain, flank pain, cystic enlargement of kidneys, UTI, renal colic, nephrolithiasis
ADPKD
63
Mutations in three genes, PKD 1, 2 and 3 lead to similar disease. The disease is called —— and the phenomenon is called ——
ADPKD, Locus heterogeneity
64
Two proteins mutated, —— and ——-. Jaundice, hemolytic anemia y splenomegaly.
Ankyrin, spectrin, Hereditary Spherocytosis
65
Role of Spectrin
Scaffolding, maintains integrity of plasma membrane.
66
Role of ankyrin
Attaches integral membrane proteins to spectrin-actin membrane skeleton, if missing, Rbc vulnerable to sequestration by the spleen.
67
Sphere shaped cells, red blood cells small, no central pallor, rericulocytosis
Hereditary Spherocytosis
68
How to Dx Hereditary Spherocytosis?
Osmotic fragility test.
69
What does the osmotic fragility test shows?
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
GNACgene, chromosome 9
Sturge Weber Syndrome
71
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.
Sturge Weber Syndrome
72
Seizures beginning in infancy, Malformation of blood vessels in Pía mater, muscle weakness in one side of the body, 50% develop glaucoma
Sturge Weber Syndrome
73
Tuberous sclerosis inheritance
Autosomal dominant
74
Hypokalemic periodic paralysis inheritance
Autosomal dominance
75
Patients presents with hamartias (malformed tissues ), hamartomas ( benign growths) and
Seizures,
Tuberous sclerosis
76
Ash leaf spots
Tuberous sclerosis
77
Mutation in tuberous sclerosis
Gene TSC 1 and TSC 2, code for protein called Hamartin and Tuberin
78
Proteins affected in Tuberous sclerosis
Hamartin y Tuberin
79
Tumors in heart, kidneys, eyes, lungs, skin and or brain in autistic child
Tuberous sclerosis
80
Woods lamp helps to identify it in patients with fair skin
Ash leaf spots of tuberous sclerosis
81
Bilateral renal angiomyolipoma, associated gene?
TSC 1
82
Multiple Subcutaneous nodules, cannot shave them off
Neurofibromatosis
83
Cafe au lait spots, six or more.
| Hamartomas of the iris, optic nerve tumor
Von recklinhousen disease, or Tyoe 1 neurofibromatosis disease
84
NF-1 gene, chromosome 17
Neurofibromatosis Type 1 - Von recklingbausen
85
Tendency for nodules underthe skin to decend when gentle pressure is applied
Buttonholing seen in neurofibromatosis Von reckinghausen disease.
86
Hamartomas of the Iris are called
Lish nodules, seen in neurofibromatosis disease Von recklinghausen
87
Uncontrolled, erratic growth of neurofibromas
Type 1 neurofibromatosis, vonrecklinghausen
88
Central neurofibromatosis, gene? Chromosome?
Gene NF-2, chromosome 22
89
Which neurofibromatosis inhibits the p21 ras oncoprogetein?
Type 1 neurofibromatosis, Von Recklinghausen disease.
90
Which neurofibromatosis inhibits a tumor suppressor protein?
Type 2, central neurofibromatosis
91
MERLÍN protein mutation
Type 2, NF-2 gene, neurofibromatosis central,
92
Bilateral acoustic neuromas,
nF-2
93
Bilateral acoustic neuromas are a CN— tumor, aka schwanomas, located usually at the ———— angle.
CN8
| Cerebro pontine angle
94
Deafness, tinnitus, problema with balance, headache, facial weakness/paralysis, loss of taste in the anterior 2/3 of tongue
Neurofibromatosis Type 2, central, chromosome 22, NF-2
95
Sensorineural hearing loss and tinnitus hints a a compression of what ?
Cochlea
96
Disequilibrium, vertigo and nystagmus hint at a compression of what?
Vestibular compression (vestibule)
97
Loss of sensation around mouth and nose, loss of corneal reflex, paralysis of muscles of mastication hints at compression of what nerve?
Compression of CN5
98
Increased risk of ependimomas and meningiomas
Neurofibromatosis Type 2, central
NF-2
chromosome 22
99
Chronic, slowly porgressive muscle disease, wasting and weakness of muscles, myotonia (prolongues contractions), cardiovascular disturbances, endocrinopathies, visual disturbances.
Myotonic dystrophy
100
Myotonic dystrophy inheritance mode?
Autosomal dominant
101
myotonic dystrophy genes affected? 2
MD1 is gene DMPK, repeat CTG
| MD2 is gene CNPB. Repeat CCTG
102
cTG repeat is on chromosome
Type 1 Myotonic Dystrophy - Steinerts disease
Chromosome 19
Gene DMPK
103
cCTG repeat is on chromosome
Chromosome 3, type 2 Myotonic dystrophy, called PROMM, repeat CCTG
Gene CNPB
104
Muscle weakness in face, neck, hands, lower legs
Type 1 Myotonic Dystrophy- steinerts disease, chromosome 19, repeat CTG
Gene DMPK
105
Muscle weakness in hips, elbows, shoulders and neck
Type 2 Myotonic Dystrophy- PROMM
Chromosome 3,
Repeat CCTG
Gene CNPB
