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MOD Genetic, Immuno, and Hematopoesis > Genetics > Flashcards

Genetics Flashcards

(143 cards)

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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
Phenylketonuria Inheritance Disorder
Autosomal Recessive
26
Population for Phenlketouria
Scandinavian Descent
27
Etiology of Phenylketonuria
1) PAH Def | 2) DHPR Def
28
Pathogenesis of Phenylketonuria
1) Decreased Conversion to Tyrosine 2) Decreased Melanin 3) Hyperphenylalaninemia
29
Clinical Manifestations of Phenylketonuria
1) Musty or Mousy Odor 2) Hypopigmentation Hair and Skin 3) Eczema 4) Intellectual Disability starting at 6mo
30
Gene and Chromosome of Cystic Fibrosis
1) CFTR | 2) 7q31.2
31
Population of Cystic Fibrosis
Caucasian
32
Etiology of CF
Three base pair deletion
33
Pathogenesis of CF
1) Decreased Chlorine Transportation across PM | 2) Congenital Bilateral Absence of Vas Deferens
34
CF patients are at an increased risk of colonization of which bacteria?
Pseudomonas Aeruginosa
35
Etiology of Familial Hypercholesterolemia
Decreased Synthesis or Function of LDL Receptor
36
Associated Gene of Familial Hypercholesterolemia
LDLR (less likely - ApoB and PCDK9)
37
Pathogenesis of Familial Hypercholesterolemia
1) Increased Cholesterol
38
Clinical Manifestation of Heterozygotes w/ Familial Hypercholesterolemia
Tendinous Xanthomas
39
Clinical Manifestation of Homozygotes w/ Familial Hypercholesterolemia
Skin Xanthomas | Atherosclerosis
40
Consequence of Familial Hypercholesterolemia
Increased MI Risk
41
Gene for Marfan Syndrome
1) FBN1 Chromosome 15q21.1 | 2) FBN2 Chromosome 5q23.31
42
Etiology of Marfan Syndrome
Defect in Fibrillin-1 and/or Fibrillin 2
43
What is Fibrillin
ECM Glycoprotein
44
Pathogenesis of Marfan Syndrome
1) Loss Structural Support in Microfibril-rich CT | 2) Excessive Activation of TGF-B
45
Organs Affected in Marfan Syndrome
1) Aorta 2) Ligaments 3) Ciliary Zonules (Lens)
46
What is the pathogenic affect of TGF-B
Increased MMP Activity --> Loss of ECM
47
Clinical Manifestations
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
48
Ehlers-Danlos Syndrome Etiology
Defect in Synthesis or Structure of Collagen
49
Sign of Ehlers-Danlos Syndrome
Gaping Defects via Minor Injuries
50
Types of Ehlers-Danlos Syndrome
1) Classic 2) Vascular 3) Kyphoscoliosis
51
Classical Ehlers-Danlos Clinical Manifestation
1) Skin and Joint Hypermobility 2) Atrophic Scars 3) Easy Bruising
52
Vascular Ehlers-Danlos Clinical Manifestation
1) Thin Skin 2) Arterial or Uterine Rupture 3) Bruising 4) Small Joint Hyperextensibility
53
Complications of Vascular Ehlers-Danlos
Rupture of Cornea and Retinal Detachment
54
Clinical Manifestations of Kyphoscoliosis
1) Hypotonia 2) Joint Laxity 3) Congenital Scoliosis 4) Ocular Fragility
55
Complication of Kyphoscoliosis
Rupture of Cornea and Retinal Detachment
56
Lysosomal Storage Disease Link
Neurodegenerative Disorders
57
Mechanisms of Lysosomal Storage Diseases
1) Primary Accumulation | 2) Secondary Accumulation - Neurodegenerative Link
58
What is common of Lysosomal Storage Diseases
Distention of Hepatocytes
59
Treatments for Lysosomal Storage Diseases
1) Enzyme Replacement Therapy 2) Substrate Reduction Therapy 3) Molecular Chaperone Therapy
60
Tay-Sachs Disease Gene Association
HEXA
61
What enzyme is def.
Hexosaminidase a-subunit
62
Which chromosome is Tay-sachs associated with?
Chromosome 15
63
Population of Tay-Sachs Disease
Ashkenazic Jews
64
Pathogenesis of Tay-Sachs
1) Swollen Ganglion Cells of Retina 2) GM2 Ganglioside Accumulation - Neuron - Retina
65
Morphology of Tay-Sachs
1) Lipid vacuole in neuron cytoplasm | 2) Whorled lysosome
66
Clinical Manifestation of Tay-Sachs Disease
@ 6mo: Motor/Mental Deterioration; Blindness and Flaccidity @1-2 yo: Vegetative State @ 2-3 yo: Death Cherry-Red Spot in the Macula
67
Which Clinical Manifestation is a hallmark of Tay-Sachs
Cherry-Red Spot in the Macula
68
Stains for Tay-Sachs
Oil Red O | Sudan Black B
69
Gaucher Disease Etiology
Glucocerebrosidase Mutation
70
Pathogenesis of Gaucher Disease
Glucocerebrosidase Accumulation in Phagocytes
71
List the Types of Gaucher's
Type I: Chronic Non-neuropathic Type II: Infantile Cerebral Pattern Type III: Progressive CNS Dz
72
Which Gaucher Disease starts in adolescence or early adulthood
Type III (Intermediate)
73
Which Gaucher Dz results in an Early Death with CNS involvement
Type II
74
Which Gaucher Dz has no CNS involvement and is associated with Jews
Type I
75
Morphology of Gaucher Disease
1) Gaucher Cells in Bone Marrow | - Crumpled Tissue Paper
76
Aplastic anemia is associated with which lysosomal storage disease
Aplastic Anemia
77
Clinical Manifestation of Gaucher Disease
1) Enlarged Spleen >10kg 2) Pancytopenia 3) Thrombocytopenia
78
Niemann-Pick Disease Population
Ashkenazi Jews
79
Etiology of Niemann-Pick Disease
Sphingomyelinase Def
80
Pathogenesis of Niemann-Pick Disease
Lysosomal Accumulation of Sphingomyelin
81
Types of Niemann-Pick Disease
1) Type A 2) Type B 3) Type C
82
Morphology of Niemann-Pick Disease: Histology and Gross
1) Histological: - Foamy Cytoplasm - Zebra Bodies - Lysosome w/ concentric lammellations 2) Massive Splenomegaly and 1/3-1/2 have Cherry Red Retinal Spot
83
Describe Type A Niemann-Pick Disease
1) Severe Infantile Form due to complete lack of enzyme 2) Extensive Neuro Involvement 3) Visceral accumulation due to MKD
84
Type A Niemann-Pick Disease onset of symptoms and when are they dead
6mo dead by 3yo
85
Which type of Niemann-Pick has no CNS involvement and reach adulthood
Type B
86
What is the gene association of Type B Niemann-Pick Disease
NPC1
87
What disease is associated with a-L-iduronidase def.
MPS I Hurler
88
Clinical Manifestations of MPS I Hurler
1) Hepatosplenomegaly 2) Cardiovascular Complications: Coronary a Deposits 3) Clouding of Cornea 4) Coarse Facial Features
89
Which diseases area associated with Zebra Bodies
1) Niemann-Pick Disease 2) MPS I Hurler 3) MPS II Hunter
90
Morphology of MPS I Hurler
1) Balloon Cells (Swollen Lysosomes) | 2) Lamellated Zebra Bodies
91
MPSI Hurler in a nutshell
1) Intellectual Disabilities 2) Cardiac Anomalies 3) Autosomal Recessive
92
How is MPS II Hunter Inherited
X-Linked
93
Etiology of MPS II Hunter
Iduronate-2 Sulfatase Def
94
Pathogenesis of MPS II Hunter
Glycosaminoglycan Acummulation
95
Where do Glycosaminoglycans in MPS II Hunter accumulate
Mononuclear Phagocytes
96
Clinical Manifestation of MPS II Hunter
1) Hepatosplenomegaly 2) Coarse Facial Features 3) NO corneal clouding 4) Milder
97
Morphology of MPS II Hunter
Balloon Cells | Lamellated Zebra Bodies
98
MPS II Hunter in a nut shell
1) Life Expectancy to Adulthood 2) Intellectual Disability 3) X-linked Recessive
99
List the Glycogenoses
1) Heptorenal - von Gierke Disease 2) McArdle Disease 3) Generalized Glycogenosis - Pompe Disease
100
Clinical Manifestations of von Gierke Disease
1) Low Blood Glucose - Hypoglycemia | - Increased storage in Liver
101
Etiology of von Gierke Disease
Glucose-6-Phosphate Def.
102
McArdle Disease Etiology
Muscle Phosphorylase Def
103
Clinical Manifestations of McArdle Disease
1) Low energy output 2) Increased glycogen storage in muscle 3) Muscle weakness 4) Muscle cramps after exercise w/o increased blood lactate
104
Pompe Disease Etiology
Acid a-glucosidase/acid maltase def
105
Clinical Manifestation of Pompe disease
Early Death Glycogen Storage in many organs Cardiomegaly
106
Clinical Manifestations of Multigenic Disorders
1) Congenital Malformation 2) Cleft Lip 3) Cleft Palate 4) Neural Tube Defect
107
Etiology of Trisomy 21
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
Risk Factor of Trisomy 21
Mothers age: - >45 - <20
109
Clinical Manifestations of Trisomy 21
1) Intellectual Disability 2) Simian Crease 3) Oblique palpebral fissure 4) Flat facial profile
110
Complications of Trisomy 21
1) Congenital Heart Disease: Atrioventricular Septal Defects 2) Acute Leukemia 3) Alzheimer Disease: >40yrs
111
Trisomy 18 Etiology
Nondisjunction: 47,XX, +18 Mosaic: 46,XX/47,XX +18
112
Clinical Manifestations of Trisomy 18
1) Intellectual Disability 2) Overlapping Fingers 3) Micrognathia 4) Rocker-Bottom Feet
113
Complications of Trisomy 18
Renal Malformations | Congenital Heart Defects
114
Trisomy 13 Etiology
Nondisjunction: 47,XX +13 Translocation: 46,XX, +13 Mosaic: 46,XX/47,XX +13
115
Clinical Manifestations of Trisomy 13
1) Intellectual Disability 2) Microcephaly 3) Cleft Lip and Palate 4) Polydactyly 5) Rocker-Bottom Feet
116
Complications of Trisomy 13
1) Congenital Heart Defects 2) Umbilical Hernia 3) Renal Defects
117
Chromosome 22q11.2 Deletion Etiology
q11.2 band deletion
118
Diseases caused by a Chromosome 22q11.2 deletion
DiGeorge Syndrome | Velocardifacial Syndrome
119
Clinical Manifestations of DiGeorge Syndrome
1) Thymic Hypoplasia --> T-Cell immunodeficiency | 2) Parathyroid Hypoplasia --> Hypocalcemia
120
What is Klinefelter Syndrome
Male Hypogonadism
121
What is the karyotype of Klinefelter Syndrome
47, XXY
122
Clinical Manifestations of Klinefelter Syndrome
Gynecomastia | Abnormally long legs
123
Gynecomastia manifestations
1) Female-type pubic hair pattern 2) Small Testes 3) Breast Development 4) Poor beard growth
124
Complications of Klinefelter Syndrome
1) Type 2 DM and Metabolic Syndrome 2) Mitral Valve Prolapse 3) Teratomas 4) Increase Breast Cancer Rick and SLE 5) Male Infertility
125
What is Turner Syndrome
Hypogonadism in Phenotypic Females
126
Etiology for Turner Syndrome
Complete or Partial Monosomy of X Chromosome
127
Clinical Manifestation of Turner Syndrome
1) Short Stature 2) Webbing of Neck 3) Cardiovascular Malformations 4) Amenorrhea 5) Lack of Secondary Sex Characteristics 6) Fibrotic Ovaries
128
Complications of Turner Syndrome
Streak Ovaries' Primary Amenorrhea Cystic Hygroma Congenital Heart Disease
129
Fragile X Syndrome Etiology
FMR1
130
CGG Repeat is characteristic of what disease
Fragile X
131
CAG repeat is characteristic of what disease
Huntington Disease
132
Clinical Manifestations of Fragile X Syndrome
1) Broad Forehead 2) Elongated Face 3) Pectus Excavatum 4) Enlarged Testicle 5) Seizures
133
Gene Huntington Disease Protein
Huntingtin
134
When does CAG repeat occur
Spermatogenesis
135
Clinical Manifestations of Huntington Disease
Progressive movement disorders and Dementia
136
Huntington Disease is associated with what type of degeneration?
Striatal Neuron Degeneration
137
LHON Etiology
Heteroplasmy | Threshold Effect
138
Clinical Manifestation LHON
1) Progressive Bilateral Loss of Ventral Vision | 2) Cardiac conduction Defect
139
Prader-Willi syndrome Etiology
Parental Chromosome 15 Deletion
140
Angelman Syndrome Etiology
Maternal Chromosome 15 Deletion
141
Clinical Manifestation of Prader-Willi Syndrome
``` Intellectual Disability Short Stature Small Hand and Feet Hypogonadism Hyperphagia Obesity ```
142
Clinical Manifestation of Angelman Syndrome
Ataxic Gait Inappropriate Laughter Seizures
143
Angelman Syndrome pts are know as?
Happy Puppets

MOD Genetic, Immuno, and Hematopoesis (3 decks)

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