Module 1 Genetics > Diseases > Flashcards

Diseases Flashcards

(59 cards)

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1
Q

MI signs

A
  • High LDH1/LDH2 ratio
  • CK-MB > 3%
  • cTnI and cTnT increase
  • myoglobin earliest marker but non-specific for MI
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2
Q

bilary duct obstruction

A
  • caused by gallstones or tumors
  • ALP (most specific)
  • GGT
  • conjugated bilirubin
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3
Q

high ALP indicative of…

A
  • Obstruction of bile ducts
  • Bone disease (specifically ALP-2)
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4
Q

high GGT indicative of…

A
  • Ethanol abuse
  • medical drugs
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5
Q

high serum ALP & GGT indicative of…

A
  • Bile ducts are blocked or irritated
  • NOT related to bone damage
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6
Q

acute pancreatitis

A
  • caused by:
    • heavy alcohol intake
    • gallstones
  • increased levels of serum amylase and serum lipase
    • Lipase/amylase ratio > 2
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7
Q

chronic pancreatitis

A
  • causes:
    • CF
    • hypertriacylglycerolemia
    • years of ethanol abuse
  • same markers as acute
    • lipase/amylase ratio > 2 is characteristic of ethanol abuse
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8
Q

bone disease – Padget disease or bone tumors

A
  • Increased levels of ALP (2) in serum
    • bone injury marker
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9
Q

prostate cancer

A
  • PSA test
    • prostate specific antigen test
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10
Q

hepatocellular cancer

A
  • alpha-fetoprotein (AFP) normally found in fetus
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11
Q

Lesch-Nyhan syndrome

A
  • X-linked recessive disease
  • complete deficiency of HGPRT
    • inability to salvage hypoxanthine or guanine
  • results in:
    • increased PRPP
    • decreased IMP and GMP
    • increased de novo purine synthesis
  • Mental retardation
  • Excessive production of uric acid which leads to gout
  • Self-mutilation
  • Orange crystals in diapers
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12
Q

SCIDS (ADA deficiency)

A
  • autosomal recessive disease
  • Deficiency of adenosine deaminase
    • severe immunodeficiency caused by accumulation of dATP which prevents T and B cell proliferation bc DNA not synthesized
  • Untreated kids die before 2 years of age
  • Extremely large buildups of dATP
    • dATP inhibits ribonucleotide reductase
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13
Q

gout

A
  • hyperuricemia
    • acute arthritic joint inflammation caused by deposition of monosodium urate crystals
  • Allopurinol/febuxostat are non-competitive inhibitors of xanthine oxidase
    • causes excretion of hypoxanthine and xanthine instead of urate
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14
Q

orotic aciduria

A
  • low activites of orotidine phosphate decarboxylase and orotate phosphoribosyltransferase
  • signs:
    • poor growth
    • megaloblastic anemia
    • excretion of large amount of orotate in urine
  • Administration of uridine results in improvement of anemia and decreased excretion of orotate
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15
Q

cholera

A
  • ADP ribosylation of Gsalpha
    • continuously active Gsalpha, leads to increased cAMP levels
  • dysentery (diarrhea)
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16
Q

pertussis

A
  • ADP ribosylation of Gi-alpha
    • continously active Gi-alpha
    • increased production of cAMP in respiratory cells
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17
Q

MERRF

A
  • mitochondrial disorder
  • myoclonic epilepsy with ragged red fibers
  • mutation in tRNA gene
  • affects ATP production
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18
Q

LHON

A
  • mitochondrial disease
  • Leber hereditary optic neuropathy
  • manifests as progressive blindness around 20-30 years
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19
Q

MELAS

A
  • mitochondrial disease
  • mitochondrial encephalopathy, lactic acidosis and stroke-like episodes
  • heteroplasmy
    • used to describe only mt disease
    • means that there is variable expression in offspring
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20
Q

neurofibromatosis (NF1)

A
  • Autosomal dominant disorder
  • mutations in NF-1 gene that codes for neurofibromin protein
  • Neurofibromin codes for a tumor suppresor protein
    • NF1 gene activates RAS GTPase
  • Symptoms:
    • neurofibromas: swellings on skin
    • Lisch nodules in iris of eye
    • Cafe-au-lait spots
    • Increased risk of cancer
  • Allelic heterogeneity
  • Variable expression + high penetrance
  • New mutation hot spot (especially if older father)
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21
Q

Charcot-Marie-Tooth

A
  • autosomal dominant disorder
  • locus heterogeneity
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22
Q

familial hypercholesterolemia

A
  • Autosomal dominant disorder
  • LDL receptor deficiency
  • example of Haplo-insufficiency
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23
Q

Huntington’s disease

A
  • autosomal dominant disorder
  • triple repeat disorder (CAG repeat) in the exon of the gene
    • leads to gluatmine tract
  • Progressive dementia
  • Loss of motor control
  • Gain of function mutation
  • Incomplete penetrance but delayed age of onset
  • Anticipation
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24
Q

myotonic dystrophy

Study These Flashcards
A
  • autosomal dominant disorder
  • triple repeat (CTG) in the 3’ UTR of the DMPK gene
  • Symptoms:
    • cataracts
    • heart conduction defects
    • endocrine changes
    • wasting of muscles
    • myotonia
  • Pleiotropic
  • Anticipation
25
Marfan syndrome
* autosomal dominant disorder * mutation in the fibrillin-1 gene * symptoms: * long limbs * hypermobile joints * myopia/lens dislocation * cardiovascular disease * Pleiotropic * New mutation hot spot, esp for older fathers
26
osteogenesis imperfecta
* autosomal dominant disorder * mutation in collagen gene * symptoms: * bone fractures * blue sclera * **locus heterogeneity** * pleiotropic
27
achondroplasia
* autosomal dominant disorder * FGFR3 mutation * severe stunting of growth * **gain of function mutation** * **new mutation hot spot, esp in older father**
28
acute intermittent porphyria
* autosomal dominant disorder * **example of haplo-insufficiency**
29
Tay-sachs
* autosomal recessive disorder * lysosomal disorder * HEXA deficiency * leads to accumulation of GM2 gangliosides * death of neurons in brain and spinal cord
30
cystic fibrosis
* autosomal recessive disorder * mutation found in CFTR gene * most common is F508 deletion * symptoms: * RIPAS * loss of function mutation * **allelic heterogeneity** * **compound heterozygotes**
31
sickle cell anemia
* autosomal recessive disorder * causes Hb to polymerize and distort the RBC * Gain of function mutation * Heterozygote advantage: less likely to get malaria
32
phenylketonuria (PKD)
* autosomal recessive disorder * leads to buildup of phenylalanine in body * can lead to severe mental disabilities * loss of function mutation
33
congenital deafness
* autosomal recessive disorder * loss of function mutation * **locus heterogeneity**
34
SCIDS due to ADA
* autosomal recessive disorder * Purine degradation pathway affected * ADA deficiency leads to dATP buildup which is toxic to T and B cell proliferation * Loss of function mutation * locus heterogeneity
35
hemochromatosis
* autosomal recessive disorder * HFE gene mutation * iron overload disorder * more severe in males since females can get rid of iron through menstruation * Loss of function mutation * allelic heterogeneity * incomplete penetrance + variable expression * delayed age of onset
36
alkaptonuria
* autosomal recessive disorder * loss of function mutation
37
homocystinuria
* autosomal recessive disorder * loss of function mutation
38
galactosemia
* autsomal recessive disorder * loss of function mutation
39
alpha1 antitrypsin deficiency
* autosomal recessive disorder * deficiency of alpha1 antitrypsin deficiency * uncontrolled neutrophil elastase actvity destroys lung tissue * symptoms: * emphysema * smoking is a major factor * loss of function mutation
40
xeroderma pigmentosum
* autosomal recessive disorder * more severe in individuals exposed more frequently to environmental UV radiation * variable expression
41
Rett syndrome
* X-linked dominant * affects females more often than males * males with mutant X gene usually die in utero
42
incontinentia pigmenti
* X-linked dominant * symptoms: * **b**listers and rashes in early life * **r**etinal detachment * **i**ntellectual and learning disability * **m**arble cake appearance * variable expressivity due to X inactivation
43
vitamin D resistant rickets
* x-linked dominant
44
DMD (and less severe Becker)
* x linked recessive * mutation on dystrophin gene * tends to be lethal before age of 30 * very low reproductive fitness * symptoms * muscle weakness * pseudohypertrophy of calf muscles * new mutation hot spot
45
G6PD deficiency
* x-linked recessive
46
hemophilia A and B
* X-linked recessive * symptoms: * increased tendency to bleed after minor trauma * **allelic heterogeneity**
47
Red-green color blindness
* x-linked recessive
48
X-linked SCID
* defect in the gamma-chain of the receptor for several different interleukins (IL2RG) * **locus heterogeneity**
49
retinitis pigmentosa
* digenic inheritance * mutation in 2 independent genetic loci * ROM1 and perpherin * symptoms: * progressive visual impairment * degenerating rods
50
Prader Willi Syndrome
* imprinting * Paternal deletion of SNRPN, and therefore, maternal genes of UBE3A expressed twice * symptoms: * obese kids * mental and developmental delay * underdeveloped genitalia * hypotonia in infancy * tested with SNP chip
51
Angelman syndrome
* imprinting * deletion of maternal UBE3A gene, so two paternal SNRPN genes * symptoms: * happy puppet syndrome * severe mental retardation * seizures * tested by SNP chip
52
Fragile X syndrome
* x-linked * triple repeat disorder (CGG) in the promoter region of FMR1 gene * leads to increased methylation of this region and silencing of FMR1 gene * symptoms: * temper tantrum * intellectual disability * prominent ears * elongated face * maroorchidism * anticipation
53
Zellweger syndrome
* peroxisomal disease * mutations in genes required for peroxisomal function
54
respiratory distress syndrome
* caused by low L/S ratio in premature babies * less alveolar surfactant, can lead to alveoli collapse * \>2, fetal lung mature * \<1.5, fetal lung is not mature and higher risk of RDS
55
systemic lupus erythematosus
* Autoantibodies to U1 RNA spliceosome component and histone and topoisomerase * symptoms: * fatigue, arthritis, fever, skin rashes, kidney problems
56
transmissible spongiform encephalopathy
* prion disease * symptoms: * dementia * loss of coordination * death
57
β-Thalessemia
* Many individuals with β-thalassemia have mutations in the β-globin gene that generate additional splice sites within the mRNA * frame shifts or premature stop codons are introduced into the mature mRNA * results in the production of an abnormal β-globin protein
58
bullous pemphigoid
* caused by antibodies targeting **hemidesmosomes** * leads to blisters
59
Limp Girdle Muscular Dystrophy
* patients the LGMD possess a mutation in the calpain-3 gene that generates a new splice site within the exon * results in a shorter mRNA that is missing exon 16 codons * produces defective protein
Module 1 Genetics
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