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MOD Genetic, Immuno, and Hematopoesis > Genetics > Flashcards

Genetics Flashcards

1
Q

What are the 4 Major categories of Human Genetic Disorders

A

1) Single Gene Mutations ( Mendelian DO)
2) Chromosomal DO
3) Complex Multigenic DO
4) Single-Gene DO w/ non-classical patterns of inheritance

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2
Q

What are the subtypes of Single Gene Mutations (Mendelian)

A

1) Point Mutations
2) Non-coding Mutations
3) Insertions and Deletions
4) Trinucleotide Repeats

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3
Q

Types of Point Mutations

A

1) Missense

2) Nonsense

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4
Q

Examples of Non-coding mutation mechanisms

A

1) Enhancer or Promoter Sequence

2) Splicing

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5
Q

Types of Deletion and Insertion Mutations

A

1) In-Frame

2) Out-of-Frame(Frameshift)

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6
Q

List 3 examples of Frameshift Mutations

A

1) Tay-Sachs: 4 Base Deletion
2) Cystic Fibrosis: 3 Base Deletion
3) ABO Blood Typing: 1 Base Deletion

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7
Q

What is Anticipation?

A

1) Commonly seen w/ Trinucleotide Repeats (Neurodegenerative Disorders)
2) Increased Severity and Onset

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8
Q

Transmission Patterns of Mendelian Disorders

A

1) AD
2) AR
3) X-Linked Recessive

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9
Q

What is the usual result of an Autosomal Dominant Disorder in-terms of its product?

List Examples

A

1) Loss of Function: Familial Hypercholesterolemia

2) Gain of Function: Huntingtin Protein Toxic to Neurons

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10
Q

How are autosomal dominant disorders passed down if they cause infertility?

A

1) Present Later in Life

2) New Mutations

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11
Q

Patterns of Dz mechanism in AD disorders?

A

1) Regulation of Complex Metabolic Pathways

2) Key Structural Proteins

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12
Q

List 5 Examples of Autosomal Dominant Disorders and the organ system they affect

A

1) Huntington Disease - Nervous
2) Neurofibromatosis - Nervous
3) Marfan Syndrome - Skeletal
4) Ehlers - Danlos Syndrome - Skeletal
5) Osteogenesis Imperfecta - Skeletal

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13
Q

What type of Inheritance is commonly associated with Inborn Errors

A

1) Autosomal Recessive

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14
Q

List 3 examples of autosomal recessive diseases

A

1) Cystic Fibrosis
2) Phenylketonuria
3) Tay-Sachs

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15
Q

Common Characteristics of X-Linked Recessive Disorders: Males and Females

A

1) Males are Infertile and Daughters are Carriers

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16
Q

If an X-Link affected male has off spring with normal female, what is the inheritance pattern

A

Male: None
Female: Carriers

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17
Q

If an X-Link affected female has offspring with a normal male, what is the inheritance pattern?

A

1 Carrier
1 Affected Phenotype
2 Normal

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18
Q

2 Examples of X-Link inherited diseases

A

1) G6PD

2) Fragile X Syndrome

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19
Q

Disease Examples of Chromosomal Disorders

A

1) Trisomies

2) Chromosome 22q11.2

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20
Q

Congenital Malformations is an example of a type of what disorder?

A

Complex Multigenic Disorder

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21
Q

Disease Mechanisms of Single-Gene DOs w/ non-classical patterns of inheritance

A

1) Triple Repeat
2) mtDNA
3) Genomic Imprinting
4) Gonadal Mosaicism

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22
Q

Disease Mechanisms of Triplet Repeats and List Disease Examples

A

1) Loss of Function - Fragile X
2) Toxic Gain of Function - Huntington Disease
3) Toxic Gain of Function mediated by mRNA - Fragile X Tremor-Ataxia Syndrome

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23
Q

Morphological Patterns of Triplet Repeats

A

Accumulation: Aggregated Mutant Proteins in Large intranuclear inclusion

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24
Q

Example of mtDNA disease

A

Leber Hereditary Optic Neuropathy (LHON)

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25
Q

Phenylketonuria Inheritance Disorder

A

Autosomal Recessive

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26
Q

Population for Phenlketouria

A

Scandinavian Descent

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27
Q

Etiology of Phenylketonuria

A

1) PAH Def

2) DHPR Def

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28
Q

Pathogenesis of Phenylketonuria

A

1) Decreased Conversion to Tyrosine
2) Decreased Melanin
3) Hyperphenylalaninemia

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29
Q

Clinical Manifestations of Phenylketonuria

A

1) Musty or Mousy Odor
2) Hypopigmentation Hair and Skin
3) Eczema
4) Intellectual Disability starting at 6mo

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30
Q

Gene and Chromosome of Cystic Fibrosis

A

1) CFTR

2) 7q31.2

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31
Q

Population of Cystic Fibrosis

A

Caucasian

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32
Q

Etiology of CF

A

Three base pair deletion

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33
Q

Pathogenesis of CF

A

1) Decreased Chlorine Transportation across PM

2) Congenital Bilateral Absence of Vas Deferens

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34
Q

CF patients are at an increased risk of colonization of which bacteria?

A

Pseudomonas Aeruginosa

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35
Q

Etiology of Familial Hypercholesterolemia

A

Decreased Synthesis or Function of LDL Receptor

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36
Q

Associated Gene of Familial Hypercholesterolemia

A

LDLR (less likely - ApoB and PCDK9)

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37
Q

Pathogenesis of Familial Hypercholesterolemia

A

1) Increased Cholesterol

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38
Q

Clinical Manifestation of Heterozygotes w/ Familial Hypercholesterolemia

A

Tendinous Xanthomas

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39
Q

Clinical Manifestation of Homozygotes w/ Familial Hypercholesterolemia

A

Skin Xanthomas

Atherosclerosis

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40
Q

Consequence of Familial Hypercholesterolemia

A

Increased MI Risk

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41
Q

Gene for Marfan Syndrome

A

1) FBN1 Chromosome 15q21.1

2) FBN2 Chromosome 5q23.31

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42
Q

Etiology of Marfan Syndrome

A

Defect in Fibrillin-1 and/or Fibrillin 2

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43
Q

What is Fibrillin

A

ECM Glycoprotein

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44
Q

Pathogenesis of Marfan Syndrome

A

1) Loss Structural Support in Microfibril-rich CT

2) Excessive Activation of TGF-B

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45
Q

Organs Affected in Marfan Syndrome

A

1) Aorta
2) Ligaments
3) Ciliary Zonules (Lens)

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46
Q

What is the pathogenic affect of TGF-B

A

Increased MMP Activity –> Loss of ECM

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47
Q

Clinical Manifestations

A

1) Tall and Long Extremities
2) Double Jointed: Thumb can be hyperextended to wrist
3) Ectopia Lentis: Dislocation of Lens
4) Aortic Dissection and Cystic Medial Necrosis

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48
Q

Ehlers-Danlos Syndrome Etiology

A

Defect in Synthesis or Structure of Collagen

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49
Q

Sign of Ehlers-Danlos Syndrome

A

Gaping Defects via Minor Injuries

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50
Q

Types of Ehlers-Danlos Syndrome

A

1) Classic
2) Vascular
3) Kyphoscoliosis

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51
Q

Classical Ehlers-Danlos Clinical Manifestation

A

1) Skin and Joint Hypermobility
2) Atrophic Scars
3) Easy Bruising

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52
Q

Vascular Ehlers-Danlos Clinical Manifestation

A

1) Thin Skin
2) Arterial or Uterine Rupture
3) Bruising
4) Small Joint Hyperextensibility

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53
Q

Complications of Vascular Ehlers-Danlos

A

Rupture of Cornea and Retinal Detachment

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54
Q

Clinical Manifestations of Kyphoscoliosis

A

1) Hypotonia
2) Joint Laxity
3) Congenital Scoliosis
4) Ocular Fragility

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55
Q

Complication of Kyphoscoliosis

A

Rupture of Cornea and Retinal Detachment

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56
Q

Lysosomal Storage Disease Link

A

Neurodegenerative Disorders

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57
Q

Mechanisms of Lysosomal Storage Diseases

A

1) Primary Accumulation

2) Secondary Accumulation - Neurodegenerative Link

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58
Q

What is common of Lysosomal Storage Diseases

A

Distention of Hepatocytes

59
Q

Treatments for Lysosomal Storage Diseases

A

1) Enzyme Replacement Therapy
2) Substrate Reduction Therapy
3) Molecular Chaperone Therapy

60
Q

Tay-Sachs Disease Gene Association

A

HEXA

61
Q

What enzyme is def.

A

Hexosaminidase a-subunit

62
Q

Which chromosome is Tay-sachs associated with?

A

Chromosome 15

63
Q

Population of Tay-Sachs Disease

A

Ashkenazic Jews

64
Q

Pathogenesis of Tay-Sachs

A

1) Swollen Ganglion Cells of Retina
2) GM2 Ganglioside Accumulation
- Neuron
- Retina

65
Q

Morphology of Tay-Sachs

A

1) Lipid vacuole in neuron cytoplasm

2) Whorled lysosome

66
Q

Clinical Manifestation of Tay-Sachs Disease

A

@ 6mo: Motor/Mental Deterioration; Blindness and Flaccidity

@1-2 yo: Vegetative State

@ 2-3 yo: Death

Cherry-Red Spot in the Macula

67
Q

Which Clinical Manifestation is a hallmark of Tay-Sachs

A

Cherry-Red Spot in the Macula

68
Q

Stains for Tay-Sachs

A

Oil Red O

Sudan Black B

69
Q

Gaucher Disease Etiology

A

Glucocerebrosidase Mutation

70
Q

Pathogenesis of Gaucher Disease

A

Glucocerebrosidase Accumulation in Phagocytes

71
Q

List the Types of Gaucher’s

A

Type I: Chronic Non-neuropathic
Type II: Infantile Cerebral Pattern
Type III: Progressive CNS Dz

72
Q

Which Gaucher Disease starts in adolescence or early adulthood

A

Type III (Intermediate)

73
Q

Which Gaucher Dz results in an Early Death with CNS involvement

A

Type II

74
Q

Which Gaucher Dz has no CNS involvement and is associated with Jews

A

Type I

75
Q

Morphology of Gaucher Disease

A

1) Gaucher Cells in Bone Marrow

- Crumpled Tissue Paper

76
Q

Aplastic anemia is associated with which lysosomal storage disease

A

Aplastic Anemia

77
Q

Clinical Manifestation of Gaucher Disease

A

1) Enlarged Spleen >10kg
2) Pancytopenia
3) Thrombocytopenia

78
Q

Niemann-Pick Disease Population

A

Ashkenazi Jews

79
Q

Etiology of Niemann-Pick Disease

A

Sphingomyelinase Def

80
Q

Pathogenesis of Niemann-Pick Disease

A

Lysosomal Accumulation of Sphingomyelin

81
Q

Types of Niemann-Pick Disease

A

1) Type A
2) Type B
3) Type C

82
Q

Morphology of Niemann-Pick Disease: Histology and Gross

A

1) Histological:
- Foamy Cytoplasm
- Zebra Bodies - Lysosome w/ concentric lammellations

2) Massive Splenomegaly and 1/3-1/2 have Cherry Red Retinal Spot

83
Q

Describe Type A Niemann-Pick Disease

A

1) Severe Infantile Form due to complete lack of enzyme
2) Extensive Neuro Involvement
3) Visceral accumulation due to MKD

84
Q

Type A Niemann-Pick Disease onset of symptoms and when are they dead

A

6mo dead by 3yo

85
Q

Which type of Niemann-Pick has no CNS involvement and reach adulthood

A

Type B

86
Q

What is the gene association of Type B Niemann-Pick Disease

A

NPC1

87
Q

What disease is associated with a-L-iduronidase def.

A

MPS I Hurler

88
Q

Clinical Manifestations of MPS I Hurler

A

1) Hepatosplenomegaly
2) Cardiovascular Complications: Coronary a Deposits
3) Clouding of Cornea
4) Coarse Facial Features

89
Q

Which diseases area associated with Zebra Bodies

A

1) Niemann-Pick Disease
2) MPS I Hurler
3) MPS II Hunter

90
Q

Morphology of MPS I Hurler

A

1) Balloon Cells (Swollen Lysosomes)

2) Lamellated Zebra Bodies

91
Q

MPSI Hurler in a nutshell

A

1) Intellectual Disabilities
2) Cardiac Anomalies
3) Autosomal Recessive

92
Q

How is MPS II Hunter Inherited

A

X-Linked

93
Q

Etiology of MPS II Hunter

A

Iduronate-2 Sulfatase Def

94
Q

Pathogenesis of MPS II Hunter

A

Glycosaminoglycan Acummulation

95
Q

Where do Glycosaminoglycans in MPS II Hunter accumulate

A

Mononuclear Phagocytes

96
Q

Clinical Manifestation of MPS II Hunter

A

1) Hepatosplenomegaly
2) Coarse Facial Features
3) NO corneal clouding
4) Milder

97
Q

Morphology of MPS II Hunter

A

Balloon Cells

Lamellated Zebra Bodies

98
Q

MPS II Hunter in a nut shell

A

1) Life Expectancy to Adulthood
2) Intellectual Disability
3) X-linked Recessive

99
Q

List the Glycogenoses

A

1) Heptorenal - von Gierke Disease
2) McArdle Disease
3) Generalized Glycogenosis - Pompe Disease

100
Q

Clinical Manifestations of von Gierke Disease

A

1) Low Blood Glucose - Hypoglycemia

- Increased storage in Liver

101
Q

Etiology of von Gierke Disease

A

Glucose-6-Phosphate Def.

102
Q

McArdle Disease Etiology

A

Muscle Phosphorylase Def

103
Q

Clinical Manifestations of McArdle Disease

A

1) Low energy output
2) Increased glycogen storage in muscle
3) Muscle weakness
4) Muscle cramps after exercise w/o increased blood lactate

104
Q

Pompe Disease Etiology

A

Acid a-glucosidase/acid maltase def

105
Q

Clinical Manifestation of Pompe disease

A

Early Death

Glycogen Storage in many organs

Cardiomegaly

106
Q

Clinical Manifestations of Multigenic Disorders

A

1) Congenital Malformation
2) Cleft Lip
3) Cleft Palate
4) Neural Tube Defect

107
Q

Etiology of Trisomy 21

A

1) Nondisjunction: 47,XX +21

2) Robertsonian Translocation: Chromosome 21 fuses w/ another acrocentric chromosome
- 46 XX +21

3) Mosaicism (Milder)
- 46 XX/47,XX +21

108
Q

Risk Factor of Trisomy 21

A

Mothers age:

  • > 45
  • <20
109
Q

Clinical Manifestations of Trisomy 21

A

1) Intellectual Disability
2) Simian Crease
3) Oblique palpebral fissure
4) Flat facial profile

110
Q

Complications of Trisomy 21

A

1) Congenital Heart Disease: Atrioventricular Septal Defects
2) Acute Leukemia
3) Alzheimer Disease: >40yrs

111
Q

Trisomy 18 Etiology

A

Nondisjunction: 47,XX, +18
Mosaic: 46,XX/47,XX +18

112
Q

Clinical Manifestations of Trisomy 18

A

1) Intellectual Disability
2) Overlapping Fingers
3) Micrognathia
4) Rocker-Bottom Feet

113
Q

Complications of Trisomy 18

A

Renal Malformations

Congenital Heart Defects

114
Q

Trisomy 13 Etiology

A

Nondisjunction: 47,XX +13
Translocation: 46,XX, +13
Mosaic: 46,XX/47,XX +13

115
Q

Clinical Manifestations of Trisomy 13

A

1) Intellectual Disability
2) Microcephaly
3) Cleft Lip and Palate
4) Polydactyly
5) Rocker-Bottom Feet

116
Q

Complications of Trisomy 13

A

1) Congenital Heart Defects
2) Umbilical Hernia
3) Renal Defects

117
Q

Chromosome 22q11.2 Deletion Etiology

A

q11.2 band deletion

118
Q

Diseases caused by a Chromosome 22q11.2 deletion

A

DiGeorge Syndrome

Velocardifacial Syndrome

119
Q

Clinical Manifestations of DiGeorge Syndrome

A

1) Thymic Hypoplasia –> T-Cell immunodeficiency

2) Parathyroid Hypoplasia –> Hypocalcemia

120
Q

What is Klinefelter Syndrome

A

Male Hypogonadism

121
Q

What is the karyotype of Klinefelter Syndrome

A

47, XXY

122
Q

Clinical Manifestations of Klinefelter Syndrome

A

Gynecomastia

Abnormally long legs

123
Q

Gynecomastia manifestations

A

1) Female-type pubic hair pattern
2) Small Testes
3) Breast Development
4) Poor beard growth

124
Q

Complications of Klinefelter Syndrome

A

1) Type 2 DM and Metabolic Syndrome
2) Mitral Valve Prolapse
3) Teratomas
4) Increase Breast Cancer Rick and SLE
5) Male Infertility

125
Q

What is Turner Syndrome

A

Hypogonadism in Phenotypic Females

126
Q

Etiology for Turner Syndrome

A

Complete or Partial Monosomy of X Chromosome

127
Q

Clinical Manifestation of Turner Syndrome

A

1) Short Stature
2) Webbing of Neck
3) Cardiovascular Malformations
4) Amenorrhea
5) Lack of Secondary Sex Characteristics
6) Fibrotic Ovaries

128
Q

Complications of Turner Syndrome

A

Streak Ovaries’
Primary Amenorrhea
Cystic Hygroma
Congenital Heart Disease

129
Q

Fragile X Syndrome Etiology

A

FMR1

130
Q

CGG Repeat is characteristic of what disease

A

Fragile X

131
Q

CAG repeat is characteristic of what disease

A

Huntington Disease

132
Q

Clinical Manifestations of Fragile X Syndrome

A

1) Broad Forehead
2) Elongated Face
3) Pectus Excavatum
4) Enlarged Testicle
5) Seizures

133
Q

Gene Huntington Disease Protein

A

Huntingtin

134
Q

When does CAG repeat occur

A

Spermatogenesis

135
Q

Clinical Manifestations of Huntington Disease

A

Progressive movement disorders and Dementia

136
Q

Huntington Disease is associated with what type of degeneration?

A

Striatal Neuron Degeneration

137
Q

LHON Etiology

A

Heteroplasmy

Threshold Effect

138
Q

Clinical Manifestation LHON

A

1) Progressive Bilateral Loss of Ventral Vision

2) Cardiac conduction Defect

139
Q

Prader-Willi syndrome Etiology

A

Parental Chromosome 15 Deletion

140
Q

Angelman Syndrome Etiology

A

Maternal Chromosome 15 Deletion

141
Q

Clinical Manifestation of Prader-Willi Syndrome

A 
Intellectual Disability 
Short Stature 
Small Hand and Feet
Hypogonadism 
Hyperphagia 
Obesity
142
Q

Clinical Manifestation of Angelman Syndrome

A

Ataxic Gait
Inappropriate Laughter
Seizures

143
Q

Angelman Syndrome pts are know as?

A

Happy Puppets

MOD Genetic, Immuno, and Hematopoesis (3 decks)

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