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MOD I Final > Chapter 5 > Flashcards

Chapter 5 Flashcards

1
Q

Traits of Mendelian Disorders (4)

A
  1. Highly Penetrant
  2. Single gene mutations
  3. Follow mendelian inheritance
  4. Generally rare unless there is strong selection (sickle cell)
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2
Q

traits of Chromosomal Disorders (2)

A
  1. Structure or number problems

2. Highly penetrant

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3
Q

traits of Complex Multigene disorders (3)

A
  1. AKA polymorphisms (each mutation add a little to problem)
  2. More common
  3. Low penetrance/highly variable
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4
Q

Point Mutations (1)

A
  1. Single BP switch
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5
Q

Types of point mutations? (2)

A
  1. Missense (conservative and non-conservative)

2. Nonsense mutations

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6
Q

This mutation forms a stop codon.

A

Nonsense mutation

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7
Q

This mutation changes one Amino Acid

A

Missense

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8
Q

B-thalassemia is what type of mutation?

A

Nonsense mutation

anemia due to reduced b-globulin?

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9
Q

Example of non-conservative missense, deals with blood cell shape.

A

Sickle cell

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10
Q

Intron related mutations are in …?

A

non-coding sequences

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11
Q

Effects of mutations in non-coding sequences? (2)

A
  1. Transcription problems (effect regulatory sequences

2. mRNA processing and splicing issues

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12
Q

2 outcomes of deletions/insertions?

A
  1. Frame shift (often premature stop codon arises)

2. Multiple of 3 (add/subtract AA)

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13
Q

Tay-sachs is an example of what type of insertions?

A

4 BP insertion

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14
Q

Trinucleotide-repeat mutation traits (2)

A
  1. Amplification of 3 NT sequences (mostly GC)

2. Non-classic inheritance pattern (increases with generations) aka dynamic

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15
Q

Pleotropism

A

1 genes => many effects (sickle cell)

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16
Q

Genetic Heterogeneity

A

Multigens => 1 effect

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17
Q

Autosomal Dominant Disorders characteristics (2 to really know)

A
  1. Patients w/o effected parents = new mutation

2. Penetrance can vary

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18
Q

Autosomal Recessive Disorders (2)

A
  1. Early onset relative to dominant disorders

2. Complete Penetrance

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19
Q

X-Linked Disorders

A
  1. Most are recessive
  2. Males are affected and pass to daughter carriers (no sons)
  3. Daughter carriers pass to sons
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20
Q

Biochemical and Molecular basis of single Gene - 4 mechanisms

A
  1. Enzyme defects and consequences
    - (metabolic block, Lack of feedback, failure to inactivate tissue damaging substrate)
  2. Defects in R + transport systems (ex. Familial hypercholesterolemia)
  3. Alterations in structure, Function or quality of nonenzyme proteins
  4. Genetically Determined Adverse Reactions to drugs.
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21
Q

Marfan Syndrome: Defect in?

A

Fibrillin

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22
Q

Where is Fibrillin found? (3)

A

Marfan Syndrome:
1. Eyes

  1. Skeleton
  2. Cardiovascular system
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23
Q

Marfan Syndrome: Fibrillin mutation?

A

FBN1 (can be FBN2)

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24
Q

Fibrillin scaffolding for?

A

Elastin

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25
Q

Marfan Syndrome: What else plays a factor (not fibrillin).

A

Excessive TGF-B activation

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26
Q

Excessive TGF-B activation leads to?

A
  1. bone overgrowth

2. Myxoid changes in MITRAL VALVES

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27
Q

What causes TGF-B problems?

A

Reduced microfibril activation (normal microfibrils cage TGF-B)

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28
Q

Marfan Syndrome: Morphologic changes

A
  1. Skeletal abnormalities
  2. Ocular changes
  3. Cardiovascular
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29
Q

Marfan Syndrome: Skeletal abnormalities

A
  1. Tall, long limbs, tapering fingers and toes
    - Joints are lax, tongue can be hyperextended to wrist
    - dolichocephalic (longheaded)
    - Spinal deformities
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30
Q

Marfan Syndrome: Ocular Changes

A
  1. Bilateral luxation or dislocation (up or out)

- Ectopia lentis bilaterally

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31
Q

Marfan Syndrome: Cardiovascular changes

A
  1. Mitral Valve prolapse
  2. Dilation of ascending Aorta
    - diagnosed via echocardiograph
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32
Q

Marfan Syndrome: Diagnosis

A

2/4 organ systems

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33
Q

Marfan Syndrome: Treatment

A

B-blockers: angiotensin 2 blockers in humans

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34
Q

Ehlers-Donlos Syndromes (EDS): main problem?

A

Collagen

-Post transcriptional

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35
Q

Tissues rich in collagen?

A
  1. Skin
  2. Ligaments
  3. Joints
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36
Q

Ehlers-Donlos Syndromes (EDS): Clinical presentation

A
  1. Extreme Flexibility
  2. Minor injuries => gaping
  3. Rupture of colon or Large A.
  4. Ocular fragility and retinal detachment
  5. Diaphragmatic Hernia
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37
Q

Ehlers-Donlos Syndromes (EDS): Types?

A
  1. Kyphoscoliosis (most common-Type 6)
  2. Vascular EDS (Type 4 EDS and type 3 collagen)
  3. Arthrochalasia and dermatosparaxis (type 7 EDS and Type 1 collagen-procollagen to collagen)
  4. Classic type (type 1/2 and Type 5 collagen)
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38
Q

Ehlers-Donlos Syndromes (EDS): Recessive or Dominant?

A

Recessive

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39
Q

Ehlers-Donlos Syndromes (EDS): Kyphoscoliosis mutation?

A

Lysyl Hydroxylase

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40
Q

LDL receptor mutation is seen in?

A

Familial Hypercholesteralemia

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41
Q

Familial Hypercholesteralemia: What are the 3 proteins on VLDL

A
  1. ApoC
  2. B-100
  3. ApoE
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42
Q

Familial Hypercholesteralemia: What protein remains on IDL

A
  1. ApoE

2. B-100

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43
Q

Familial Hypercholesteralemia: What protein remains on LDL

A
  1. B-100
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44
Q

VLDL and IDL contain

A

Cholesterol and Triglycerides

-IDL has less triglycerides

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45
Q

LDL contains

A

Just cholesterol

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46
Q

Familial Hypercholesteralemia: 5 classes

A 
class 1: synthesis
class 2: transport 
class 3: binding
Class 4: Clustering 
Class 5: Recycling
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47
Q

Percent of IDL to liver?

A

50%

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48
Q

What does LDL receptor recognize?

A

ApoE and B-100

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49
Q

Synthesis of cholesterol requires what enzyme?

A

HMG CoA reductase

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50
Q

NPC does what?

A

Removes cholesterol from lysosome.

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51
Q

NPC is related to what disease?

A

Nieman-Pick Disease

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52
Q

What stimulates storage of cholesterol esters?

A

acyl-coenzyme A

and oversupply of cholesterol

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53
Q

Familial Hypercholesteralemia: Results in? (5)

A
  1. decreased LDL catabolism
  2. increased Plasma LDL (2x or 5x)
  3. Increased LDL synth
  4. Impaired IDL transport => increased LDL formation
  5. Scavangers/monocytes can’t handle load => Xanthomas
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54
Q

Familial Hypercholesteralemia: is what type of disease?

A

Autosomal Dominant

Polygenic: requires multiple polymorphisms

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55
Q

Familial Hypercholesteralemia: Treatment?

A

Statins (2ndary prevention of ischemic heart disease)

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56
Q

Lysosomal storage diseases: (5)

A
  1. Tay-sachs
  2. Nieman-Pick Type A and B
  3. Nieman-Pick Type C
  4. Gaucher Disease
  5. Mucopolysaccharidoses (MPS)
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57
Q

Lysosomal storage diseases: Lysosomal marker?

A

Mannose-6-phosphate

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58
Q

Lysosomal storage diseases: 2 consequences

A
  1. Primary accumulation: Incomplete catabolism
  2. Secondary accumulation: Impaired Autophage (accumulation of cell organelles and can trigger apoptosis)
    - Accumulation of mitochondria can develop free radicals = death
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59
Q

Lysosomal storage diseases: 3 Tx

A
  1. Enzyme replacement therapy
  2. Substrate reduction therapy
  3. Molecular Chaperone Therapy -exogenous competitive inhb used as template for misfolded proteins (Gaucher
60
Q

Lysosomal storage diseases: Mucopolysaccharide degradation effects what organ?

A

All organs

61
Q

Lysosomal storage diseases: Phagocytic rich organs are?

A
  1. Spleen and liver

- Often enlarged

62
Q

Whorled configurations of lysosomes is associated with a defect in what enzyme? What accumulates?

A
  1. Tay-sachs Disease
  2. Hexosaminidase deficiency
  3. GM2 Gangliosidosis build up
63
Q

Tay-Sachs: Prevelent among?

A

Eastern European Jews

64
Q

What type of cells will you fined ganglioside filled vacules?

A

Tay-sachs effects Neurons (ANS + CNS)

65
Q

Common characteristic of Neural storage diseases found in most Tay-sachs cases?

A

Cherry red macula (swollen Retina ganglia)

66
Q

Clinical features of Tay-Sachs?

A
  1. Mental/motor deteriation at 6 months

2. Protein misfolding (chaperone therapy potential Tx)

67
Q

Pt with foamy cytoplasm, neuro issues and death in 3 yrs. Defect in what is most likely?

A
  1. Niemann-Pick Disease Type A
  2. Deficiency in sphingomyelinase
  3. Build-up of sphingomyelin
68
Q

Niemann-Pick Type A: Clinical features? (5)

A
  1. Foamy cells
  2. Zebra bodies (concentric bodies)
  3. Death in 3 yrs (severe infantile)
  4. Neuro issues
  5. Failure to thrive, vomiting, fever
69
Q

Niemann-Pick Type B: Clinical features (3)

A
  1. No Neural issues!
  2. Organomegaly (Protuberant abdomen due to hepatosplenomegaly-huge spleen!)
  3. Brain gyri shrunk
70
Q

This disease causes a buildup of cholesterol in lysosomes. What is the mutation?

A
  1. Niemann-Pick Disease Type C

2. Mutation in NPC1 (and 2 but mostly 1)

71
Q

Niemann-Pick Disease Type C: May present as?

A
  1. Hydrops fetalis
  2. Neonatal Hepatitis - still birth
  3. Chronic (most common): Neuro damage, ataxia and supranuclear gaze
72
Q

Pt with hepatosplenomegaly, Bone Erosion and fibrillary type cells that look like tissue paper:
What is the disease/weird cells? What Enzyme deficiency is most likely? What builds up?

A
  1. Gaucher disease-Gaucher cells
  2. Glucocerebrosidase
  3. Phagocyte accumulation
73
Q

Gaucher disease: 3 types?

A

Type 1 Non-neuropathic:
-Limited to Macrophages-still some glucocerbrodase activity. Jews w/slightly shortened lifespan

Type 2 Acute Neuropathic:
-No glucocerebrodase acitvity = early death

Type 3 Intermediate: begins in adolesence

74
Q

Gaucher Disease Type 1: Clinical features (2)

A
  1. Adult splenomegaly/bone issues

2. 2ndary pancytopenia and thrombocytopenia (spleen related)

75
Q

Gaucher Disease Tx?

A

Replacement therapy. Expensive!

76
Q

Gaucher Disease Type 2/3: Clinical features? (2)

A
  1. Gaucher cells in Virchow-Robin spaces

2. No lipids in Neurons (cytokines damage Neurons)

77
Q

Pt with joint stiffness, mental retardation, course facial features and clouding of cornea:
Disease?
Deficiency?
Build up?

A
  1. Mucopolysaccharidoses (MPS)
  2. Mucopolysacharide degradation deficiency
  3. Sulfate (heparin-sulfate) based stuff accumulates
78
Q

Mucopolysaccharidoses (MPS): Type of disease?

A

Autosomal recessive

Hunter syndrome is x-linked!

79
Q

Mucopolysaccharidoses (MPS): Where is it found?

A
  1. Phagocytes
  2. Endothelium
  3. Smooth Muscle
  4. Fibroblasts
80
Q

Mucopolysaccharidoses (MPS): Will you find zebra bodies?

A

some but not as much as in Gaucher disease

81
Q

Mucopolysaccharidoses (MPS): two types?

A
  1. Hurler syndrome (MPS-I)
    - manifests 6-24 months and death in 6-10 yrs
  2. Hunter Syndrome (MPS-II)
    - X-linked, Milder, MPS-II
82
Q

Mucopolysaccharidoses (MPS): Morphologic features?

A
  1. Balloon cells (cleared cytoplasm-small vacules w/acid schiff)
  2. Some Zebra bodies
  3. Spleen/Lover
  4. Skeletal deformaties
  5. Arterial deposits (effecting brain and coronary arteries)-think MI
83
Q

Types of Glycogen Storage Diseases? (3)

A

Hepatic:
-Type 1-Von Gierke

Myopathic:

  • Type 5- McArdle
  • Type 7-M. Phosphofructokinase activity

A-glucosidase/branching enzyme deficiency:
-Pompe Disease

84
Q

Cardiomegaly and death in early life associated with what disease?

A

Pompe disease: acid maltase deficiency (branching enzyme)

85
Q

Increased glycogen storage in liver and decreased blood glucose in what disease?

A

Von Gierke (type 1 hepatic)

86
Q

Muscle cramps after exercise and M. Phosphorylase activity down

A

McArdle disease: Type V

87
Q

Deficiency in glycolytic pathway enzymes results in what?

A

reduced ATP to muscles

88
Q

Type VII disease?

A

M. Phosphofruktokinase related. Myopathic

89
Q

Multigenic Disorders can…

A

range in severity because they are polymorphisms. home BOYEEE!!!!!!!

90
Q

Chromosomal disorders: multiple of 23

91
Q

Chromosomal disorders: not multiple of 23

A

aneuploidy

92
Q

What causes Aneuploidy??

A

Nondisjunction and anaphase lag

93
Q

What happens when I have 2 or more populations of cells and what type is this mostly seen with?

A
  1. Mosaicism

2. Sex chromosomes

94
Q

How do we see chromosomal changes?

A

we FISH for them (FISH is a test duh).

95
Q

5 types of chromosomal changes:

A
  1. Translocations
  2. Isochromosomes
  3. Inversions
  4. Deletion
  5. Ring Chromosome
96
Q

What the F are Translocations? 2-types

A

2 types:

  1. Balanced/recipricol
  2. Centric fusion/Robertsonian
97
Q

Whats a robertsonian? (3)

A

Translocation/Centric fusion:

  1. Acrocentric (happens around edges of chromosome)
  2. break into 1 small and 1 V. Large chromosome. small usually lost
  3. Phenotype generally normal
98
Q

What is a balanced recipricol?

A

Translocation:

  1. No loss of genetic material
  2. High risk of abnormal gametes
99
Q

Isochromosomes? (3)

A
  1. 1 arm of chromosome lost and remaining duplicated
  2. get a large or small chromosome
  3. Xq gives us the only live birth with this
100
Q

2 types of inversion

A
  1. Paracentric (swap places on 1 side of chromosome)

2. Pericentric (swap places on oppo sides of chromosome

101
Q

Deletions are…

A

rarely terminal

102
Q

Ring chromosome?

A
  1. Deletion at both ends and the ends fuse to make a ring
103
Q

Epicanthic folds, Oblique palpebral fissures, flat facial profile are all a result of what?

A
  1. Nondisjunction leading to trisomy 21 and downs syndrome
104
Q

Downs syndrome risk increases with…?

A

…increased maternal age

105
Q

What other additional risks for downs syndrome? (4)

A
  1. Increased risk of Leukemia
  2. After 40, downs Pts likely to get Alzheimers like diseases
  3. Increased infection rate (especially thyroid and lung)
  4. 40% have congenital Heart Disease (endocardial cushion)
106
Q

How is downs tested for?

A
  1. DNA of maternal blood derived from fetus used
107
Q

Downs is a trisomy of what chromosome

108
Q

Trisomy 18 is…

A

Edwards syndrome

109
Q

Edwards syndrome Pts…

A
  1. Die w/in 1 yr
  2. Have simian crease on hand
  3. Interstitial stenosis
110
Q

Pt has cleft lip, polydactyly and rocker bottom feet.

A

Patqu Syndrome-trisomy 13

More severe that downs.

111
Q

Pt has cleft palate, schizophrenia, decreased T-cell count, learning disabilities.
Disease/cause of?

A
  1. DiGeorge Syndrome

2. Deletion in Chromosome 22q11.2

112
Q

DiGeorge Syndrome also associated with?

A
  1. Bipolar disorders
  2. Thymichypoplasia (causes decreased T-cells)
  3. Cardiovascular abnormalities
113
Q

Factor associated with DiGeorge syndrome?

A

TBX-1 targets PAX9 and is associated with DiGeorgy syndrome phenotype

114
Q

decreased spermatogenesis region?

A

MSY region on the Y chromosome

115
Q

Heteropyknosis:

A

the inactivation of 1 x chromosome

116
Q

What is an inactive X called?

117
Q

What forms Barr Body?

A

XIST will cover w/long repeats and silence x via methylation

118
Q

Females are generally…

A

CRAZY!! kidding!! they are mosaics. hahahahahaahahaahahhaahahaha who is crazy now hahahaaa jesus.

119
Q

More x =>

A

increased mental retardation

120
Q

Pt with type 2 diabetes, mitral valve prolapse, small penis, increased FSH and hypogonadism:
Disease?
Cause?

A
  1. Klinefelter syndrome

2. Multiple x, 1 or more Y (XXY)

121
Q

Klinefelter Syndrome: clinical features (6)

A
  1. Hypogonadism
  2. Elongated body
  3. Lack of 2ndary sex Character
  4. Mitral valve prolapse (50%)
  5. Male infertility
  6. Increased FSH and decreased testosterone
122
Q

Klinefelter Syndrome: Increased risk?

A
  1. Type 2 diabetes

2. Breast cancer

123
Q

Klinefelter Syndrome: Hypogonadism causes

A
  1. increased x expression
124
Q

Pt has webbed neck, primary amenorrhia, short stature, broad chest and streak ovaries:

Disease?
Cause?
Types of structural abnormalities possible?

A
  1. Turner syndrome (45X)
  2. Missing one x chromosome or structural abnormalities
  3. Isochromosome, Ring chromosome, Deletions
125
Q

What causes short stature?

A

loss of SHOX gene

126
Q

Turner syndrome clinical features (5)

A
  1. Short stature
  2. Neck Webbing
  3. Broad chest
  4. Streak ovaries
  5. Peripheral lymphedema at birth
127
Q

Types of single-gene disorders (4)

A
  1. Trinucleotide repeats
  2. Mutations in mitochndria
  3. Genomic Imprinting
  4. Gonadal Mosaicism
128
Q

Trinucleotide repeat diseases? (2)

A
  1. Fragile X syndrome and Fragile x tremor/ataxia

2. Huntingtons

129
Q

Trinucleotide diseases are common in?

A

Neodegenerative disorders

130
Q

General principles of trinucleotide diseases?

A
  1. Expansion of G/C trinucleotide regions
  2. Proclivity of expansion depends on sex of transmitting parent (Fragile x = mom, huntington = dad)
  3. 3 key mechs (loss/gain of function and Toxic gain of mediation by mRNA
  4. Coding regions are CAG repeats
131
Q

CAG repeats will accumulate in?

A

Intranuclear inclusions

132
Q

Pt is male with long face and macroorchidism.

Disease?
Cause?

A
  1. Fragile X syndrome

2. Mutation in FMR1 mutation

133
Q

Fragile x Clinical features:

A
  1. Long face
  2. Macroorchidism
  3. Abnormal inheritance patterns (increased rink downstream generations)
134
Q

What parent is at fault for Fragile X?

A

Mother: CGG repeats expand during oogenesis but females are generally unaffected.

-More female carriers are effected than in normal x-linked diseases

135
Q

FMR1 mutation occurs when and what does it cause?

A
  1. CGG > 230
  2. Mental retardation caused by lack of FMRP
  3. FMRP also regulates intracellular transport to dendrites
136
Q

mRNA toxic gain of function is related to…

A

Fragile X Tremor/Ataxia

137
Q

Fragile X Tremor/Ataxia: clinical characteristics

A
  1. Neurological disorder later in life

2. May progress to parkinsons.

138
Q

Fragile X Tremor/Ataxia: cause?

A

FMR1 is failed to be silinced

139
Q

This diseases require a threshold of mutations to be met and is a progressive bilateral loss of vision.

A

Leber heredity optic neuropath

-Mitochondrial mutation

140
Q

Heteroplasmy definition:

A

Indv w/wild type and mutant mtDNA

141
Q

Why is mtDNA mutation diseases so variable?

A

Division of mutant DNA passed on is highly variable

142
Q

CG repeat methylization that occurs in sperm or ovum before fertilization.

A

Genomic Imprinting

143
Q

Male pt that cant stop eating has small trump hands, and a deltion in chrom 15:

disease?
Cause?

A
  1. Prader-willi

2. Loss of SNORP and deletion in PATERNALLY derived chrom 15 (mother 15 is imprinted)

144
Q

Pt can’t stop laughing and walks like a drunk person (ataxic gate) (2)

A
  1. Angelman Syndrome

2. Ubiquitin ligase defect and deletion in MATERNAL chrome 15

145
Q

Uniparental disomy definition

A

2 copies, 1 parent

146
Q

Mutations that occur after zygote formation are typical of… (3)

A

Gonadal Mosaicism

  • Effect only gametes so parent appears normal
  • more than 1 child can get mutation

MOD I Final (4 decks)

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