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Pathology > Principles of genetic diseases > Flashcards

Principles of genetic diseases Flashcards

1
Q

Hereditary factor that determines a particular trait; found on a specific region on a chromosome:

A

Gene

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1
Q

A variety of a gene (i.e. homozygous or heterozygous)

A

Allele

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2
Q

A structure made up of proteins and DNA and organized into genes:

A

Chromosome

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3
Q

The genetic makeup of an individual consisting of the genes on all 46 chromosomes:

A

Genotype

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4
Q

Observable characteristics or traits of an individual resulting from the genotype:

A

Phenotype

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5
Q

One variant of a gene on a chromosome overrides the effect of a different variant of the same:

A

Autosomal dominant

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6
Q

Two copies of an abnormal gene must be present for the disease or that to develop:

A

Autosomal recessive

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7
Q

Structure of DNA:

A

Double helix

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8
Q

DNA winds around ____ to form ____

A

histones; core particles

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9
Q

_____ folds into a thicker zig-zag fiber

A

chromatin

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10
Q

In dividing cells, ______ forms into thick ___ to light microscope

A

looped chromatin; chromatids

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11
Q

Midpoint of cell division:

A

metaphase

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12
Q

Core particle=

A

nucleosome

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13
Q

sister chromatids are connected by:

A

Kinetochore

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14
Q

Short arm=

A

p

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15
Q

Long arm=

A

q

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16
Q

An individuals complete set of chromosomes:

A

karyotype

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17
Q

In a karyotype chromosomes are arranged according to:

A

size & banding patterns

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18
Q

Same version of a gene is inherited from each parent:

A

Homozygous

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19
Q

Different versions of a gene is inherited from each parent:

A

Heterozygous

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20
Q

Single set of chromosomes in an organism:

A

haploid

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21
Q

Two copies of each chromosome:

A

diploid

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22
Q

Genetic disease of familial inheritance, transmitted through generations:

A

Hereditary disorder

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23
Q

Genetic disease present at birth:

A

congenital disorder

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24
Q

Result from mutations in single genes:

A

Mendelian disorders

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25
Q

Involve multiple genes, also including environmental influence:

A

Complex disorders

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26
Q

Change in number or structure of chromosomes:

A

Chromosomal abnormalities

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27
Q

Single gene hereditary mutation:

A

Mendelian disorder

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28
Q

The three patterns of inheritance of a mendelian disorder:

A
  1. autosomal dominant
  2. autosomal recessive
  3. X-linked
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29
Q

Mendelian disorders are associated with a ______ of phenotypic effects

A

wide range

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30
Q

In mendelian disorders, the mutated gene can be influenced by:

A

modifier genes

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31
Q

In this type of inheritance, usually one parent is affected, and it is NOT sex dependent:

A

autosomal dominant inheritance

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32
Q

Autosomal dominant inheritance may also occur due to new mutations within:

A

the sperm or egg

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33
Q

In Autosomal dominant inheritance clinical features are modified by:

A

reduced penetrance and variable expressivity

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34
Q

in Autosomal dominant inheritance age of onset may be delayed from childhood such as in:

A

Huntington disease

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35
Q

____ inheritance is manifested in the homozygous state

A

autosomal recessive inheritance

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36
Q

In order for autosomal recessive inheritance to occur, how many parents must be carriers?

A

Both parents

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37
Q

Autosomal recessive inheritance onset:

A

usually early in life

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38
Q

Complete pentrance is common with _____ type of inheritence

A

autosomal recessive

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39
Q

With what type of inheritance are new mutations rarely detected clinically

A

autosomal recessive

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40
Q

One copy of the X-chromosome is inactivated:

A

Lyonization

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41
Q

Inactivated X-chromosome observed in nucleus:

A

Barr body

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42
Q

The process of lyonization is considered:

A

Random

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43
Q

Almost all sex-linked disorders are:

A

X-linked

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44
Q

Most X-linked disorders are:

A

Recessive

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45
Q

Female carriers transmit only to sons (50% chance):

A

Recessive transmission

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46
Q

Affected males do not transmit disorders to sons, but all daughters are carriers:

A

X-linked disorders

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47
Q

Familial hypercholestermia has an AD prevalence of:

A

1/500

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48
Q

Disease characterized by loss of function mutations in gene encoding LDL receptor:

A

Familial hypercholesteremia

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49
Q

LDL receptor is involved in:

A

transport & metabolism of cholesterol

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50
Q

Familial hypercholesteremia results in elevated levels of _____ —-> ________ & ______

A

cholesterol; premature athersclerosis; MI risk

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51
Q

Clinical feature familial hypercholesterolemia involving the skin:

A

Skin xanthomas

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52
Q

Normal levels of LDL:

High LDL: (hypercholesterolemia)

A

normal= less than 100mg/dL

High= more than 160mg/dL

53
Q
A

skin xanthomas- familial hypercholesterolemia

54
Q

What type of inheritance is see in familial hypercholesterolemia:

A

Autosomal dominant

55
Q

Connective tissue disease:

A

Marfan syndrome

56
Q

What type of inheritance is seen in Marfan syndrome?

A

Autosomal dominant

57
Q

What is the prevalence of Marfan syndrome?

A

1/5000

58
Q

Inherited defect in fibrillan-1, glycoprotein in ECM:

A

Marfan syndrome

59
Q

Marfan syndrome is characterized by inherited defect in:

A

Fibrillin-1 (glycoprotein in ECM)

60
Q

Clinical features:

-skeletal abmormalities (slender habitus, long legs/arms/fingers)
-high arched palate
-flat feet
-hyperextinsibility of joints
-ocular changes
-aneurysmal dilation, aortic dissection —> aortic rupture
-enlarged heart
-stretch marks

A

Marfan syndrome

61
Q

Individuals with Marfan syndrome are at an increased risk of:

A

Aortic rupture

62
Q

What is the inheritance pattern of neurofibromatosis type-1:

A

Autosomal dominant

63
Q

What type of neurofibromatosis is most common?

A

Type-1

64
Q

What is the prevalence of neurofibromatosis Type-1?

A

1/3000

65
Q

Neurofibromatosis Type-1 occurs due to mutations in:

A

NF1 gene (50% represent new mutations)

66
Q

NF1 gene is associated with what gene?

A

Neurofibromin (tumor suppressor protein)

67
Q

In this disease, patients may have multiple neurofibromas:

A

Neurofibromatosis Type-1

68
Q

Common peripheral nerve neoplasm:

A

Neurofibroma (seen in Neurofibromatosis Type-1)

69
Q

In Neurofibromatosis Type-1 the neurofibromas present most commonly on the:

A

skin but also can occur in the oral cavity (tongue & buccal mucosa)

70
Q

Clinical features:

-multiple neurofibromas (varies in size, small papules to masses- elephantiasis neuromatosa of the skin)
-few tumors to hundreds/thousands
-Cafe au Lait macules on the skin
-2/3rds have relatively mild disease

A

Neurofibromatosis Type-1

71
Q

Describe the oral manifestations seen in Neurofibromatosis Type-1: (3)

A
  1. neurofibromas (tongue & buccal mucosa)
  2. enlargement of fungiform papillae
  3. enlargement of mandibular canal (radiograph)
72
Q

Treatment of Neurofibromatosis Type-1:

A

directed at managing complications

73
Q

What occurs in 5% of Neurofibromatosis Type-1 cases:

A

Neurofibrosarcoma development

74
Q
A

Oral neurofibroma (Neurofibromatosis Type-1)

75
Q
A

Neurofibromas (Neurofibromatosis Type-1)

76
Q
A

Neurofibromas (Neurofibromatosis Type-1)

77
Q
A

Cafe au Lait macules (Neurofibromatosis Type-1)

78
Q
A

(Neurofibromatosis Type-1)

79
Q

What is the inheritance pattern of cystic fibrosis?

A

autosomal recessive

80
Q

A disorder affecting ion transport:

A

CF

81
Q

Abnormal fluid secretion in exocrine glands:

A

CF

82
Q

what organ systems does CF affect?

A
  1. respiratory
  2. GI
  3. Reproductive
83
Q

What is the prevalence of CF?

A

1/2500

84
Q

What gene is mutated in CF? What does this cause?

A

CFTR gene- abnormal function of chloride channel regulatory protein

85
Q

Clinical features:

-viscous mucus secretions (block airway & pancreatic ducts)
-recurrent pulmonary infections
-pancreatic insufficiency
-high NaCl level in sweat
-sinusitis
-liver cirrhosis
-male infertility

A

CF

86
Q

What is a common type of bacterial infection seen in CF patients:

A

Pseudomonas infection (lungs)

87
Q

Treatment of CF:

A
  1. antimicrobial therapies, enzyme replacement, B/L lung transplant
  2. Drugs to increase CFTR function
88
Q

What is the inheritance pattern of PKU?

A

Autosomal recessive

89
Q

What is the prevalence of PKU?

A

1/10,000

90
Q

What disease is characterized by high phenylalanine levels:

A

PKU

91
Q

PKU is caused by a mutation in ____ resulting in ____

A

PAH gene; lack of PAH enzyme

92
Q

The mutation in the PAH gene creating a lack of PAH enzyme does not allow for; (in PKU):

A

Phenylalanine to be converted to Tyrosine

93
Q

If this disease is left untreated in infants, it leads to impaired brain development, developmental delay, seizures & reduced pigmentation:

A

PKU

94
Q

PKU individuals must regulate _____ to prevent signs/symptoms

A

Diet

95
Q

-fish
-milk
-meat
-dairy
-beans
-diet soda
-wheat
-eggs
-nuts
-legumes
-high protein foods

These foods are:

A

high in phenylalanine

96
Q

-corn
-tomatos
-most veggies
-most fruits
-special breads/cookies/crackers
-sugars
-low protein foods

These foods are:

A

low in phenylalanine

97
Q

Lysosomal storage disease:

A

Tay-Sachs disease

98
Q

What is the inheritance pattern of Tay-Sachs disease?

A

Autosomal recessive

99
Q

What is the prevalence of Tay-Sachs disease?

A

1/3500

100
Q

Tay Sachs disease is caused by a mutation in:

A

Hexosaminidase A

101
Q

In Tay Sachs disease in hexosaminidase A results in:

A

accumulation of gangliosides

102
Q

In Tay Sachs disease, the accumulation of gangliosides primarily affects ____ & ____ but can also accumulate in other tissues such as:

A

Neurons & retina; heart, liver, spleen

103
Q

Clinical features:

-infantile form: severe- infants show signs at 3-6 months of age
-developmental impairment
-seizures
-blindness
-death by 2-3 years

A

Tay-sachs disease

104
Q

What is the inheritance pattern of hemophilia A?

A

X-linked

105
Q

An X-linked inherited bleeding disorder:

A

hemophilia A

106
Q

What is the prevalence of hemophilia A?

A

1/5000 (U.S. males)

107
Q

Hemophilia is caused by a deficiency in:

A

Factor VIII

108
Q

Clinical features:

-failure of hemostasis after circumcision (common first sign)
-significant hemorrhage after minor trauma
-hemarthrosis
-increased coagulation time

A

Hemophilia A

109
Q

Symptom of hemophilia A that may result in crippling deformity of joints:

A

Hemarthrosis

110
Q

Treatment of hemophilia A:

A

Replacement therapy with clotting factor

111
Q

What should you do prior to oral or perio surgery on an individual with hemophilia A?

A

Consult with physician

112
Q

What is the inheritance pattern of Duchenne muscular dystrophy?

A

X-linked

113
Q

Duchenne muscular dystrophy is characterized by:

A

skeletal muscle defects

114
Q

What is the prevalence of Duchenne muscular dystrophy?

A

1/3500 (U.S. Males)

115
Q

Individuals with Duchenne muscular dystrophy have a mutation in what gene? What does this affect?

A

Dystrophin gene; defects in dystrophin protein

116
Q

Dystrophin protein (that is defective in Duchenne muscular dystrophy) is found in: (4)

A
  1. skeletal muscle
  2. cardiac muscle
  3. brain
  4. peripheral nerves
117
Q

Clinical features:

-muscle weakness
-cardiac muscle damage (arrhythmias & heart failure)
-cognitive impairment

A

Duchenne muscular dystrophy

118
Q

Result from alterations in the number or structure of chromosomes:

A

Cytogenic disorders

119
Q

Cytogenic disorders may affect:

A

Autosomes or sex chromosomes

120
Q

With Cytogenic disorders we can observe:

A

aberration on karyotype

121
Q

Exact multiple of haploid cells:

A

Euploid

122
Q

More than one pair of chromosomes: (i.e. 3n or 4n)

A

Polyploid

123
Q

Polyploid generally results in:

A

spontaneous abortion

124
Q

abnormal number of chromosomes, not an exact multiple of n:

A

aneuploid

125
Q

Aneuploid is often due to:

A

nondisjunction during meiosis

126
Q

Trisomy 21 is also known as:

A

Down syndrome

127
Q

Extra copies of genes on chromosome 21:

A

Trisomy 21

128
Q

95% of individuals affected by trisomy 21 is due to:

A

meiotic nondisjunction

129
Q

Clinical features:

-flat facial profile
-epicanthic folds and upward pointed eyes
-mental retardation
-congenital heart defects (40%)
-increased leukemia risk
-increased infections

A

Trisomy 21

130
Q
A

Tay-Sachs disease (lysosome accumulation)

131
Q
A

Pathology (28 decks)

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