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PA 2203 Mod 5 Flashcards

1
Q

Huntington’s Disease - Age of Onset

A

30-50

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2
Q

Cystic Fibrosis - Gene/Function

A

Cystic fibrosis transmembrane conductance regulator - CFTR Chloride channel important for production of sweat, digestive fluids, and mucous

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3
Q

Turner Syndrome - Type

A

45X = partly/complete missing X chromosome

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4
Q

Hereditary Hemochromatosis - Gene/Function

A

Human hemochromatosis protein - HFE Regulate irons uptake

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5
Q

Hereditary Hemochromatosis - Secondary Symptoms

A

Arthritis Adrenal insufficiency Congestive heart failure

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6
Q

Cystic Fibrosis - Life Expectancy

A

40

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7
Q

Duchenne Muscular Dystrophy - Symptoms

A

Progressive proximal weakness - bottom up Wheelchair by 12 Myocardial fibrosis

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8
Q

Duchenne Muscular Dystrophy - Gene/Function

A

Dystrophin Muscle calcium regulator

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9
Q

Polycystic Kidney Disease - Prognosis

A

Potentially fatal if in renal failure

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10
Q

Neurofibromytosis - Gene/Function

A

Neurofibromin - NF1 Merlin - NF2 Neuronal tumour suppressors

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11
Q

Cystic Fibrosis - Locations Affected

A

Lungs - 80% COD GI Skin (salty skin)

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12
Q

Hemophilia B - Gene/Function

A

F9 gene Regulate coagulation factor 9

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13
Q

Familial Hypercholesterolemia - Type

A

Autosomal dominant

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14
Q

Rett Syndrome - Pathophysiology

A

Other genes are abnormally expressed

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15
Q

Cystic Fibrosis - Lung Pathophysiology and Symptoms

A

Mucous build up –> clogged airways, trapping of bacteria –> pneumonia, fibrosis

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16
Q

Phenylketonuria - Type

A

Autosomal recessive

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17
Q

Prader-Willi Syndrome - Symptoms

A

Intellectual disability Increased appetite via increased ghrelin Type II diabetes Lordosis Sleep disorders Behaviour problems Short Infertility

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18
Q

Marfan Syndrome - Type

A

Autosomal dominant

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19
Q

Angelman Syndrome - Type

A

Delection/inactivation of maternal C15

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20
Q

Hemophilia - Pathophysiology

A

Muted coagulation factors –> can’t clot –> secondary hemostasis

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21
Q

Familial Hypercholesterolemia - Symptoms

A

Xanthoma on tendons of hands, feet, legs Early cardiovascular disease (atherosclerosis, angina pectoris, myocardial infarction, stroke)

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22
Q

What is deuteranomaly?

A

Sensitivity to green light

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23
Q

Marfan Syndrome - Gene/Function

A

Fibrillin-1 - FBN1 Glycoprotein needed for ECM - produces/maintains elastic fibers

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24
Q

Polycystic Kidney Disease - Symptoms

A

Renal hypertension Flank pain Urinary problems Hematuria Cyst

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25
What is protanomaly?
Sensitivity to red light
26
Spinal Muscular Atrophy - Gene/Function
SMN1 Survival of motor neurons
27
Neurofibromytosis - Pathophysiology
Neuromas grow on nervous tissue Compress nerves 3-5% malignant tumours
28
Prader-Willi Syndrome - Type
Monosomy C15
29
Klinefelter Syndrome - Type
47XXY = male with one extra X chromosome Nondisjunction of sex chromosomes during meiosis I
30
Hereditary Hemochromatosis - Pathophysiology
Increased iron levels - can't be excreted Accumulation in liver, heart and pancreas
31
Familial Hypercholesterolemia - Gene
LDLR and ApoB
32
What is Robertsonian translocation?
Two normal C21 Long arm of C21 attaches to one C14
33
What two conditions display co-dominant allele features?
Sickle cell anemia, familial hypercholesterolemia
34
Turner Syndrome - Population
Female
35
Sickle Cell Anemia - Symptoms
Fatigue Crises (periods of chest pain, abdomen pain, joint pain from ischemia) Blood pooling Increased infection from spleen damage
36
Down Syndrome - Symptoms
Short Low muscle tone Single palmer crease Intellectual disability Immune system dysfunction Increased risk for congenital heart defect, leukaemia, epilepsy, thyroid disease, sleep apnea, mental disorders
37
Phenylketonuria - Symptoms
Intellectual disability Seizures Mood disorders Irregular motor function Behaviour problems Musty sweat/urine smell
38
Rett Syndrome - Type
X linked dominant
39
Down Syndrome - Type
Trisomy C21
40
What is nondisjunction?
Failure of separation of homologous chromosomes or sister chromatids
41
Red-Green Colourblindness - Type
X linked recessive
42
Klinefelter Syndrome - Population
Male
43
Tay-Sachs heterzygotes have increased immunity from...
Tuberculosis
44
Polycystic Kidney Disease - Pathophysiology
Increased intracellular Ca --\> differentiation and proliferation of epithelium, loss of reabsorption capacity
45
Rapid aging in Down Syndrome is associated with what two conditions?
Alzheimer's Dementia
46
Red-Green Colourblindness - Genes
Red and green photoreceptors
47
Hemophilia A - Gene/Function
F8 gene Regulate coagulation factor 8
48
Duchenne Muscular Dystrophy - Pathophysiology
Increased intracellular calcium --\> increased intracellular water --\> lysis/swelling mitochondria Increased oxidative stress --\> necrosis, fibrous repair
49
Spinal Muscular Atrophy - Type
Autosomal recessive
50
Sickle Cell heterozygotes have increased immunity from...
Malaria
51
Sickle Cell Anemia - Pathophysiology
Rigid RBC --\> vessel occlusion, slowed blood flow, ischemia, rapid depletion greater than replenishing ability --\> anemia
52
Hemophilia - Type
X linked recessive
53
Duchenne Muscular Dystrophy - Population
Male
54
Angelman Syndrome - Symptoms
Severe intellectual disability Speech impairement Sleeping disorders Seizures Ataxia Frequent laughter/smiling
55
Huntington's Disease - Type
Autosomal dominant
56
Phenylketonuria - Gene/Function
Phenylalanine hydroxlase - PAH Catalyzes phenylalanine --\> tyrosine --\> dopamine reaction
57
Huntington's Disease - Symptoms
Progressive motor skill deterioration Mental decline Lung and heart disease
58
Huntington's Disease - Gene/Function
Huntington protein - HTT Causes defective protein and cell death
59
Rett Syndrome - Population, Inheritance
Females Occurs spontaneously or via gremlin mutation
60
Familial Hypercholesterolemia - Pathophysiology
LDL circulates 2x as long before uptake by liver
61
Cystic Fibrosis - GI Pathophysiology and Symptoms
Thickened pancreatic secretions --\> impairment of exocrine secretion into duodenum --\> pancreatitis --\> fibrosis, cysts, trouble absorption nutrients, diabetes
62
Spinal Muscular Atrophy - Pathophysiology
Loss of motor neuron functions in SC Progressive atrophy
63
Hereditary Hemochromatosis - Classic Triad of Symptoms
Chirrhosis Bronze skin Diabetes
64
Sickle-Cell Anemia - Type
Autosomal recessive
65
Hereditary Hemochromatosis - Type
Autosomal recessive
66
Turner Syndrome - Symptoms
Short Amenorrhea Heart defect Diabetes Low thyroid hormone NORMAL INTELLIGENCE
67
Polycystic Kidney Disease - Type
Autosomal dominant
68
Neurofibromytosis - Type
Autosomal dominant
69
Red-Green Colourblindness - Symptoms
Can't discriminate red-green-yellow colour spectrum
70
Cystic Fibrosis - Type
Autosomal recessive
71
Duchenne Muscular Dystrophy - Type
X linked recessive
72
Rett Syndrome - Gene/Function
Methyl-CpG-binding protein 2 - McCP2 Regulates gene expression on X chromosome
73
Rett Syndrome - Symptoms
Intellectual disability Hand movements Slowed brain and head growth Trouble walking Seizures Scoliosis
74
Sickle Cell Anemia - Gene
B-globulin chain, hemoglobin
75
Polycystic Kidney Disease - Gene/Function
Polycystin protein - PKD1, PKD2 Found in kidney epithelial cells and reduce intracellular calcium
76
Klinefelter Syndrome - Symptoms
Start at puberty Reduced fertility Weak muscles Tall Poor coordination Less body hair Small genitals Gynocomastia Low libido NORMAL INTELLIGENCE
77
Marfan Syndrome - Symptoms
Long thin bones Lens dislocation Valve disease Aortic aneurysm Aortic dissection
78
Cystic Fibrosis heterozygotes have increased immunity from...
Tuberculosis
79
What condition is Robertsonian translocation associated with?
Down Syndrome

CMCC (4 decks)

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