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Alya Cards Pathology Robbins basis > Ch 5 > Flashcards

Ch 5 Flashcards

1
Q

Genetics: What is ‘variable expressivity’

A

All individuals who have the mutant gene express it differently

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2
Q

____ of function mutations are commonly associated with autosomal dominant disorders.

A

Loss of function

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3
Q

What are characteristics of autosomal recessive disorders?

A
  1. Can occur due to consanguinity
  2. 1 in 4 chance of having trait
  3. Does not usually affect parents, but siblings may have it
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4
Q

Marfan syndrome is associated with ____ gene mutation.

A

Fibrillin-1

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5
Q

Ghents criteria is used to diagnose (condition)

A

Marfan syndrome

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6
Q

What are the 2 autosomal recessive ehler danlos conditions?

A
  1. Kyphoscoliosis Type VI
  2. Dermatopraxis Type VIIc
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7
Q

What enzyme is deficient in EDS kyphoscoliosis type VI?

A

Lysyl hydroxylase

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8
Q

What enzyme is deficient in EDS dermatopraxis type VIIc?

A

N peptidase

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9
Q

Familial hypercholesterolemia gene mutations 3

A
  1. Mutations in LDL-R
  2. Apo B gene mutations
  3. Activating mutations PCSK9 gene
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10
Q

What is an example of codominant pattern of inheritance?

A

AB blood group, HLA genes

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11
Q

What is a point mutation?

A

Replacement of one nucleotide with another in a sequence

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12
Q

Example of a disease with point mutation?

A

Sickle cell anemia

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13
Q

What are the types of point mutations 3

A
  1. Silent
  2. Missense
  3. Nonsense
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14
Q

What is a silent mutation?

A

Replacement of nucleotide and still codes for same protein

Eg GAA —> glu
GAG —> glu

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15
Q

What is a nonsense mutation?

A

Replacement of nucleotide leads to stop

Eg GAA –> glu
UAA–> stop

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16
Q

What is a missense mutation?

A

Replacement of nucleotide that gives another protein

Eg GAA –> Glu
GAC–> Asp

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17
Q

What are the stop codons? 3

A

UAA
UAG
UGA

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18
Q

What is a frame shift mutation?

A

Caused by addition or deletion of nucleotide

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19
Q

A codon is made of (number) nucleosides

A

3

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20
Q

What are the type of frame shift mutations? 3

A
  1. Wild type
  2. Base pair deletion
  3. Three nucleoside insertion/deletion
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21
Q

Y linked disorders are also known as ___(name)

A

Holandric inheritance

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22
Q

What is penetrance?

A

How often someone with the genotype shows the corresponding phenotype

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23
Q

What are the characteristics of autosomal recessive disorders?

A
  1. Narrow expressivity (no variability)
  2. Childhood onset
  3. Complete penetrance
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24
Q

Any disease that ends with ‘uria’ is ____ inheritance.

A

Autosomal recessive

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25
Q

Autosomal recessive conditions examples

A

Anything than ends with ‘uria’

ABCDEF
Albinism
Beta thalassemia/Sickle cell
Cystic fibrosis/Congenital adrenal hyperplasia
Friedrich’s ataxia/Fanconi
Glycogen/lysosomal storage disease
Haemochromatosis
Wilson disease
Haemochromatosis

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26
Q

Which protein is negatively affected in Marfan syndrome?

A

Elastin

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27
Q

Marfan syndrome causes elevation of ____ (growth factor)

A

TGF-B

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28
Q

Which way does the lens dislocate in Marfan syndrome?

A

Superotemporal dislocation

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29
Q

Inferonasal dislocation of lens is associated with ___(condition)

A

Homocytinuria

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30
Q

Neurofibromatosis type 1 is caused by mutation in which chromasome?

A

17

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31
Q

Neurofibromatosis type 2 is caused by mutation in which chromasome?

A

22

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32
Q

Cafe au late spots are seen in which types of neurofibromatosis?

A

Type 1 and 2

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33
Q

Neurofibromatosis 1 has defect in which protein?

A

Neurofibromin

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34
Q

Neurofibromatosis 2 has defect in which protein?

A

Merlin

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35
Q

Leisch nodules are seen in (neurofibromatosis)

A

Type 1 only

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36
Q

Ependymoma, acoustic schwanoma and meningioma are seen in which neurofibromatosis type?

A

2

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37
Q

Classic cells seen in meningioma

A

Psamomma bodies

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38
Q

Drop metastasis is associated with ____ (condition)

A

Ependymoma

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39
Q

All metabolic diseases

A
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40
Q

All inborn errors of metabolism are autosomal recessive except 2

A
  1. Fabrys
  2. Hunters

Both are X linked recessive

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41
Q

What enzyme is deficient in phenylketonuria?

A

Phenylalanine hydroxylase

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42
Q

What is the enzyme deficient in Alkaptonuria?

A

Homogenisticnacid oxidase

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43
Q

Onion skin lysosome is associated with which lysosome disease?

A

Tay Sachs

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44
Q

Ochronosis is associated with which disease?

A

Alkaptonuria

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45
Q

Tay Sachs disease is cause by (enzyme deficiency)

A

Hexomidase A deficiency

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46
Q

What is Tay Sachs disease?

A

Neurodegenerative disease (accumulation of GM2 gangliosides in lysosomes of neurons)

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47
Q

Which conditions would you see Cherry Red spots in eye?

A

Cherry Trees Never Grow Tall

Central retinal artery occlusion
Tay Sachs
Nieman Pick
Gauchers disease
Trauma (Berlints oedema)

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48
Q

What is the deficiency in Nieman Pick?

A

Spholingomyelinase

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49
Q

Zebra bodies are seen in which conditions? 4

A

Nieman pick
Hunters
Harley
Fabry

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50
Q

Askanazi Jews are associated with development of which lysosomal condition?

A

Nieman pick

51
Q

Which lysosomal condition has foam cells in spleen and liver?

A

Nieman pick

52
Q

Glucocerebrosidase deficiency is which disease?

A

Gauchers disease

53
Q

Bone pain and hepatosplenomegaly is associated with which lysosomal disorder?

A

Gaucher

54
Q

Crumpled tissue paper appearance is associated with which lysosomal disorder?

A

Gaucher

55
Q

Which condition has gout, intellectual disability and self-mutilating behaviour?

A

Leisch nyhan syndrome (X linked)

56
Q

Which conditions are X linked recessive but manifest in females?

A
  1. Turners 45XO
  2. Lyonization (X becomes inactive)
  3. Carrier mother
57
Q

What are X linked recessive disorders?

A

ABCDEFGH

A Haemophilia A/B
B Burton’s abetaglobulinema
C colour blindness (red-green), CJD (chronic granulomatous disease)
D Duchenne/BMD
E Leisch Nyhan
F Fabry disease, Fragile X
G G6PD deficiency
H Hunters

58
Q

What are the disorders that are non Mendelian? 4

A
  1. Mitochondrial disorders
  2. Genomic imprinting
  3. Gonadal mosaicism
    4.trinucleotide repeat disorders
59
Q

Mitochondrial gene disorders characteristics of inheritance

A
  1. Inherited from mother only
  2. Affected mother spreads disease to all children
  3. Affected father does not spread it
60
Q

What are the mitochondrial disorders? 6 examples

A
  1. MELAS: Mitochondrial encephalopathic lactic acidosis
  2. CPEO: Chronic progressive ophthalmoplegia
  3. MERRF: Myoclonic epilepsy red ragged fibers
  4. NARP: neurogenic ataxia retinitis pigmentosa
  5. LHON: Lebers hereditary optic neuropathy
  6. Leigh syndrome
61
Q

What is a classic feature of CPEO?

A

Bilateral ptosis

62
Q

What are 2 key features of MELAS?

A

Tonic clinic seizures
Muscle weakness

63
Q

What are 3 features of MERRF?

A

Dementia
Cerebellar ataxia
Generalised seizure

64
Q

Mitochondrial cristae that look like ‘phonographic records’ and/or ‘car park’ appearance is suggestive of

A

MERRF

65
Q

What mitochondrial disorder presents with sudden vision loss?

A

Labors hereditary optic neuropathy

66
Q

How does Labors neuropathy cause vision loss?

A

Complex 1 dysfunction–> death optic nerve

67
Q

What is the dysfunction in Leigh syndrome?

A

1.SuRF-1 (80%)
2.MT-ATP6 (20%)

Both lead to complex 1 dysfunction

68
Q

What are the 2 main features of Leigh syndrome?

A

Hypertrophic cardiomyopathy
Nystagmus

69
Q

What trinucleotide repeat is seen in Huntington ataxia?

A

CAG

70
Q

What trinucleotide repeat is seen in fragile X syndrome?

A

CGG

71
Q

What trinucleotide repeat is seen in Friedrich ataxia?

A

GAA

72
Q

What is the gene mutation in fragile X syndrome?

A

FMR-1 (Familial mental retardation)

73
Q

Carrier females of fragile X syndrome are at risk of developing (condition)

A

Premature ovarian failure

74
Q

What are the clinical features of fragile X syndrome?

A
  1. Long face/ears/mandible
  2. Mitral valve prolapse
  3. Normal nose
75
Q

Fragile X syndrome: how many repeats of its sequence will lead to this?

A

> 200 trinucleotide repeats

76
Q

What is the mutation in prader-willi syndrome?

A

SNORP gene inactivation

  1. Paternal ch 15 deletion
    Or
  2. Maternal Ch 15 x2
77
Q

What are the clinical features of Down syndrome?

A
  1. Macroglossia
  2. Mental retardation
  3. Upslanting palpebral fissures
  4. Flat nasal bridge
  5. Bushfield spots
  6. Saddle toe
  7. Single Palmar fissure
78
Q

What are the complications seen in Down Syndrome?

A
  1. Alzheimer’s by 40
  2. Hirschprungs/dueodenal atresia
  3. Transient abnormal mylopoisis
  4. Endocardial cushion defects
79
Q

What is the most common cancers that patients with Down syndrome get <3 years of age?

A

Acute megakaryoblastic leukemia

80
Q

What is the most common cancer the Down patients get >5 years age?

A

ALL

81
Q

What are the markers for Down syndrome (lab)?

A
  1. B HCG (high)
  2. PAPP A (High) - only for dual testing
  3. Estriol (Low)
  4. AFP (low)
  5. Inhibin A (high) - quadruple test
82
Q

Turner Syndrome: which chromosome is missing (45XO)

A

Paternal (80%)

83
Q

Deletion of which amino acid causes cystic fibrosis?

A

F508 (Phenylalanine)

84
Q

What is the most common form of EDS (Ehler Danlos)?

A

Kyphoscoliosis (Type VI)

85
Q

Von Gierke disease, what enzyme is deficient?

A

Glucose 6 phosphatase (excessive glycogen storage in liver)

86
Q

What type of point mutation is Nieman-Pick Type A?

A

Missense

87
Q

Which storage disorder has fibrillary cytoplasm?

A

Gauchers

88
Q

PAS staining positive is associated with which storage disorder?

A

Gaucher

89
Q

Main cause of death in mucopolysaccharidoses (MPS)?

A

MI (balloon cells: accumulate in coronary arteries)

90
Q

What are the affected areas (ochronosis of Alkaptonuria)

A

Cartilage (ears, nose, joints - big joints)

91
Q

Androgen insensitivity syndrome inheritance?

A

X linked

92
Q

Androgen insensitivity syndrome: what is the mechanism?

A

Defective androgen receptor: does not respond to DHT but responds to estradiol

93
Q

How is fragile X syndrome detected in fetus?

A

PCR or western blot amniotic fluid

94
Q

Fragile X syndrome: when do the trinucleotide repeats occur (fertile cell cycle, parent)

A

Oogenesis in mum

95
Q

What is the difference btw Nieman Pick and Tay Sachs in presentation?

A

Tay Sachs has NO hepatosplenomegaly

96
Q

What is the deficiency in MC Ardle disease?

A

Glycogen phosphorylase - muscle cannot use glycogen, pee myoglobin after severe excercise

97
Q

What is the deficiency in Hurler disease?

A

Iduronidase

98
Q

Hurler disease inheritance?

A

Autosomal recessive

99
Q

What metabolites accumulate in Hurler’s and Hunter’s disease? 4

A

Dermatan sulfate
heparin sulfate
Keratin sulfate
Chondroitin sulfate

100
Q

What is the difference in presentation btw Hurler’s and Hunter’s?

A

Hunter has no Corneal clouding

101
Q

What is the chromosome of Kleinfelters?

A

47 XXY

102
Q

What is the inheritance of Hunters?

A

X linked recessive

103
Q

What is the deficiency in Pompe disease?

A

Acid maltase (lysosomal glucosidase)

104
Q

What is cause of death in Pompe disease?

A

Glycogen gets stored in myocardium (cardiomegaly and heart failure)

105
Q

What is patau syndrome?

A

Trisomy 13
Cleft lip
Microcephaly
Polydactly

106
Q

Monosomy (is 45 X) has which classic presentation?

A

Short 4th metacarpal

107
Q

Trisomy 18 (Edwards) has which classic hand presentation?

A

Overlapping digits (2 over 3, 5 over 4)

108
Q

What are the types of Gaucher disease?

A
  1. Type 1: 99% of cases. NO neurologic SX. Has large macrophages.
  2. Type 2: CNS affected, lethal.
  3. Type 3: CNS affected, less severe.
109
Q

Macrophages: Nieman pick vs Gauchers

A

Nieman pick has multiple vacuoles within macrophages

110
Q

Which chromosomal abnormality is likely to be carried to term?

A

Mosaicism

111
Q

Trisomy 18: features

A

Growth retardation
VSD
Horseshoe kidney
Omphalocele

112
Q

Which 2 conditions have hygroma?

A

Turners
Downs (+VSD)

113
Q

What is a Northern blot?

A

To detect RNA of interest in a sample

114
Q

What is an alternative to nitrocellulose blotting?

A

Diazobenzyloxymethyl paper - can bind single standard DNA, RNA and proteins by linking to diazonium group

115
Q

What is a western blot?

A

Similar to northern plot, but detects protein of interest (eg AIDS)

116
Q

Which direction does RNA move in a Northern blot membrane?

A

Negative end to positive

117
Q

What gel is used in western blot?

A

SDS PAGE gel

118
Q

What membrane is used in western blot?

A

PVDF membrane

119
Q

What is an ELIZA?

A

Colorimetric test that uses antibodies and colour change to identify a substance

120
Q

What is an indirect ELIZA?

A

Detect an antibody against a known antigen

121
Q

What is a Sandwich Eliza?

A

Detect antigen of interest

122
Q

What is competitive Eliza?

A

Detects how much antigen is in patient sample

123
Q

Competitive Eliza: faint or no colour change means

A

Lots of antigen present

Alya Cards Pathology Robbins basis (12 decks)

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