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Pathology Spring Exam 4 > L41-42 Genetics 1 > Flashcards

L41-42 Genetics 1 Flashcards

1
Q

Synonymous mutation

A

Point mutation that does not alter the amino acids

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2
Q

Missence mutation

A

Point mutation that alters the AA code Conservative: little or no change in function Nonconservative: change in function

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3
Q

What type of mutation occurs to cause Sickle cell anemia?

A

Missense point mutation that is nonconservative Hb B gene Difference between Glutamic acid becoming Valine and causing the Protein to change negative charge making the molecule hydrophilic

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4
Q

Nonsense mutation Disease example

A

Point mutation leading to premature stop codon Beta Thalassemia has a truncated protein for the beta globulin leading to a deficiency in beta glubulin

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5
Q

Mutation associated with Beta Thalassemia

A

Nonsense point mutation affecting the beta globulin

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6
Q

Prothrombin Mutation 20210A

A

Mutation in the intron leading to increased production of procoagulant causing hypercoagulability

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7
Q

Hereditary spherocytosis

A

Mutation in intron reagion leads to decreased production of ankyrin leads to failure to assemble spectrin

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8
Q

What is the difference between Beta-0 thalassemia and Beta-+ thalassemia?

A

Zero: make no beta globulin, generally caused by a nonsense mutation +: make some but still not enough, generally caused by splicing dysfunction

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9
Q

Diseases coming from splice mutations

A

Beta-0 thalassemia Severe hemophilia A Tay Sachs

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10
Q

What is cryptic site mutation?

A

Defect in splicing where splices do not join at the correct boundaries

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11
Q

What genetic defect is assoc. c type O blood?

A

Frame shift due to a single deletion

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12
Q

What genetic disease is assoc. c the HEXA gene?

A

Tay Sachs It is a 4 base insertion in the Ashkenasi Jew Population

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13
Q

What disease is assoc. c a mutation at deltaF508 on chromosome 7?

A

Cystic fibrosis 3 base deletion of the CFTR gene resulting in Cl/Na channel abnormalities

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14
Q

What Sx are seen with Cystic Fibrosis?

A

Adults: chronic pancreatitis, biliary cirrhosis Kids: meconium ileus, pancreatic insufficiency causing malabsorption and failure to thrive, pulmonary infections from bronchiectasis and pseudomonas infections, male infertility Test for CF in neonates is done by checking the Trypsin level which is a marker of the pancreas function

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15
Q

What nucleotides are commonly involved in trinucletide repeats?

A

Guanine Cytosine

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16
Q

When do you tend to see increased levels of recessive traits in a population?

A

Founder effect: small, isolated populations that inter-mate leading to proliferation of the recessive genes Geography limited Survival advantage

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17
Q

What are some protective mutations? Malaria, Typhoid, Sepsis, HIV

A

Malaria: sickle cell, thalassemia, G6PD Typhoid: CF Sepsis/shock: Factor V leiden HIV: CCR-5 chemokine receptor Ability to absorb iron causing hemochromatosis was protective in populations that didn’t have iron rich diet

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18
Q

What kind of inheritance/dominance are blood antigens?

A

Blood group antigens are codominant except for type O and Rh proteins

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19
Q

What kind of inheritance/dominance are HLA types?

A

Codominant

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20
Q

What is functional pleiotropism?

A

Single mutation that has multiple effects Best example of this is sickle cell anemia

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21
Q

What are SSx seen in sickle cell anemia?

A

Anemia: failure to thrive, CNS, myocardial ischemic dysfunction, hyperplasia of bone marrow Hemolysis: iron overload, pigment gallstones Sickling: Stroke, retinopathy, pneumonia, infarcts, atrophy in spleen, avascular necrosis of femoral head, osteomyelitis, skin ulcers, priapism, kidney infarcts

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22
Q

What molecule is dysfunctional in Marfan’s syndrome?

A

fibrillin

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23
Q

What is genetic heterogeneity?

A

Same defect that can come from many different genetic causes Example is Marfan’s, deafness, Alport’s, Usher, Waardenburg, Ehler’s Danlos

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24
Q

What type of mutation is more common coming from an older father?

A

New mutations in an AD fashion are more likely to come from an older father

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25
Q

Patterns of AD disorders

A

M=F Inherited form one affected parent–50% chance of getting it New mutations are common–30% of AD diseases are not familial but sporadic More likely from older fathers Delayed onset common–Marfan’s, Huntington’s, Adult PCOS

Incomplete penetrance common–example is BRCA that has a high level of penetrance

Variable expressivity

Gene product is usually nonenzyme

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26
Q

What inheritance pattern is shown?

A

M=F

50% chance of inheritance

Doesn’t skip generations

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27
Q

What is gene penetrance?

A

Classically AD diseases have a variability of penetrance or showing of the phenotype

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28
Q

Pattern of inheritance?

A

Autosomal dominant with incomplete penetrance

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29
Q

If there is mother–daughter inheritance you should think what inheritance pattern?

A

Autosomal dominant

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30
Q

Inheritance pattern of osteogenesis imperfecta?

A

Autosomal Dominant

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31
Q

Gain of function mutations are almost always what inheritance pattern?

A

AD

Huntington’s is good example

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32
Q

What chromosomes are involved for:

Huntington’s

Neurofibromatosis

PCOS

Wilm’s Tumor

Familial Polyposis

A

Huntington’s 4p

Neurofibromatosis 17q

PCOS 16p, 4q

Wilm’s Tumor 11p

Familial Polyposis 5q

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33
Q

Iheritance pattern?

A

AR

Skips generations, inherited form non affected parents, M=F, they have to show you more than 4 kids to show inheritability is .25

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34
Q

Autosomal Recessive inheritance patterns

A

Expression uniform throughout kindred

Complete penetrance common

Onset early in life

New mutations are infrequent

Enzyme defects are commonly involved

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35
Q

Inheritance pattern of PKU and Albinism

A

AR

PKU is a caucasian disease, also native americans

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36
Q

Inheritance pattern of Cystic Fibrosis

A

AR

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37
Q

Inheritance pattern of Sickle Cell

A

AR

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38
Q

Inheritance pattern?

A

X-linked recessive

Verticle, males only, no father to son transmission

Affected sons are considered Hemizygous

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39
Q

Common X-linked recessive diseases

A

Chronic Granulomatous disease

Duchene and Becker MD

Testicular feminization

X-Linked immunodeficiency–Bruton’s agammaglobulinemia

Lysosomal storage diseases: Fabry, Hunter Syn.

Hemophilia A/B

G6PD deficiency

Fragile X

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40
Q

Inheritance of Fabry disease

A

X-linked Recessive

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41
Q

Inheritance of Hunter Syndrome

A

X-linked Recessive

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42
Q

Inheritance of Lesch-Nyham Syndrome

A

X-linked Recessive

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43
Q

Inheritance of Hemophilia A and B

A

X-linked Recessive

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44
Q

Inheritance of G6PD dficiency

A

X-linked Recessive

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45
Q

Inheritance of Fragile X

A

X-linked Recessive

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46
Q

Inheritance pattern?

A

X-linked Dominant

Vertical transmission not skipping a generation

Affected males give to all daughters and none of the sons

Affected moms give to half of boys and girls

Example: Vit D resistant rickets

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47
Q

Young patient has an X-linked Dominant disease

They have hypophosphatemia, low calcitriol, and genu varum

When given Vit D, their Sx do not change

Diagnosis? What is the affected gene and other protein that it influences?

A

Vitamin D resistant Rickets

Point mutation in PHEX gene responsible for negative regulation of the FGF23 gene that promotes the excretion of phosphate in the kidney

Low phosphate leads to low Ca binding in the bones causing osteomalacia in kids and bendy bones

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48
Q

24 y/o male presents with CHF

Exam shows: tall stature, long limbs, loose joints, sternal deformity, high arched palate

Dx? Why the CHF so young?

A

Marfan’s Syndrome

CHF develops because affects the formation of fibrillin which diminishes stability of aorta leading to dilation and insufficiency of the aortic valve causing regurge that leads to LVH and CHF

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49
Q

Describe the cause of Marfan’s Syndrome

A

AD mutation of the FIBN-1 gene leading to abnormal fibrillin that inhibits polymerization–fibrillin needed for scaffolding for elastin deposition which is abundant in aorta, ligaments, ciliary zonules for lens support

FIBN-1 on chromosome 15q, usually dampens TGF-beta

Excess TGF-beta leads to bone growth and enhanced breakdown of elastic tissue

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50
Q

What disease is associated c a defective gene on chromosome 15q?

A

Marfan’s Syndrome

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51
Q

What is the primary problem in Marfan’s syndrome?

A

Primary problem is not so much the lack of fibrillin, but the excess of TGF-beta that results from no inhibition from fibrillin

52
Q

What oral deformity is characteristic of Marfan’s?

What about spinal?

A

High arched palate

Spinal: increased curves of the spine A-P and Lateral

53
Q

What disease can cause ectopia lentis?

A

Marfan’s

Bilateral subluxation of the lens because of laxity in the suspensory ligaments of the lens

54
Q

What is the most common cause of death in Marfan’s?

A

CV system failure

Aortic root dilation and dissection, aortic valve incompetence, mitral floppy valve, myxoid degeneration

Cystic medial degeneration of the aorta

55
Q

How is Marfan’s treated?

A

BP and weight control

Regular aerobic exercise

No smoking because it creates free radicals that damage elastin

Annual monitoring of aorta and CV system through echo

Aortic graft when criteria is met

56
Q

Ehler’s Danlos is a group of inherited tisue disorders of all three inheritance patterns and having 6 different variants. What is this genetic feature called when one condition comes from many different kinds of genetic damage?

A

Genetic heterogeneity

57
Q

In very general terms, what is the problem in Ehler’s Danlos?

A

Defects in collagen synthesis, structure, secretion, or degradation

Causes skin fragility, hyperextensibility, hypermobile joints, poor collagenous support of BV’s leading to purpura

58
Q

What disease?

A

Ehler’s Danlos

59
Q

Child presents with recurrent and multiple bruises

Exam shows hypermobile joints and ability to dislocate fingers at will

What is the likely Dx?

A

Ehler’s Danlos

60
Q

Patient reports having formation of scars on the skin that look like crumpled paper after minor traumatic events.

Dx? Complications of the disease related to this?

A

Ehler’s Danlos

Skin fragility, Gaping defects after minor injury, surgical repair difficult, poor wound healing, easy bruisability, joint laxity causing dislocations

61
Q

What is the only type of Ehler’s Danlos that has a shortened life expectancy?

A

Type IV which is a defect in Collagen type III

Causes rupture of: cornea, colon, arteries, uterus

62
Q

What is the inheritance pattern for Ehler’s Danlos?

A

There are 6 types and 4/6 are AD

The ones that are recessive are associated with Enzyme deficiencies ending in -ase

63
Q

What are the genes implicated in Ehler’s Danlos?

A

Type I/II Chromosome 5 (most common type)

Type IV Chromosome 3 (most serious type)

Type VIIa,b Chromosome 1

64
Q

What is the function of Mannose-6-phosphate in lysosomes?

A

Mannose-6-phosphate is essentially a stamp on the proteins that are marked to be taken to the lysosomes for use

It is a way of segregating proteins in the golgi so they go to the right place after production in the ER

65
Q

How are most lysosomal storage disease inherited? What are the exceptions?

A

Autosomal Recessive

Exceptions X-linked: Fabry, Hunter

66
Q

What is the disease progression in lysosomal storage diseases that involve the nervous system?

A

Rapd onset and rapid progression to death

67
Q

What is deficient and the cause of Tay Sachs and what does it cause to accumulate?

A

4 base insertion in chromosome 15 causes a deficiency in Hexosaminidase-alpha leading to accumulation of GM2 ganglioside in the nervous system

68
Q

What are the clinical manifestations of Tay Sachs?

A

Cherry red spot on retina

Increased brain size and influx of lipid laden macrophages

No HSM

69
Q

Child normal at birth but brought in later in first year of life because failure to meet milestones. Reported to startle easily and sometimes without stimulus. Dx? Outlook? Other Sx?

A

Tay Sachs by the startle and decreased motor coordination leading to flaccidity

Likely to die by age 2-3

Sx: blindness, mental retardation becoming dementia

70
Q

What disease has a deficiency in sphingomyeinase and has an accumulation of sphingomyelin? What chromosome?

A

Niemann-Pick

Chromosome 11

71
Q

What is the clinical picture and morphology for Niemann-Pick type A?

A

Cherry red spot and positive fat stain, neuro involvement, die early just like Tay Sachs

Unlike Tay Sachs: HSM, protuberant abdomen, foamy macrophages in liver and spleen, zebra bodies

72
Q

What is the most common lysosomal storage disease? Pathogenesis?

A

Gaucher Disease

Chromosome 1

Deficiency in glucocerebrosidase causing accumulation of glucocerebroside from the breakdown of membrane glycolipids forming Gaucher cells which are swollen phagocytes

73
Q

Biopsy of the liver shows this. Dx?

A

Image shows foamy macrophages that have accumulated in the liver. This is characteristic of Niemann-Pick

74
Q

These are PAS positive cells found in the peripheral blood flow. Can also be found in the spleen, liver, bone marrow, lymphoid tissue

Dx?

A

Gaucher disease showing fibrillary PAS+ macrophages full of glucocerebroside

Nuclei are also displaced in these cells

75
Q

What are the characteristic findings in Gaucher disease?

A

Massive splenomegaly, also involves the liver, lymph and bone marrow

Replacement of marrow leads to bone pain and erlenmyer flask deformity of long bones, also pancytopenia, thrombocytopenia

SSx appear in later childhood or adulthood

Found in Ashkenazi Jews

76
Q

What do we need to know about Gaucher type 2 and 3?

A

Involve the CNS and are therefore deadly early on

They are a more severe type of disease

77
Q

6 y/o patient presents with increasing abdominal girth. Exam shows LAD, splenomegaly, Temp normal, parents healthy, kid performing well in school, findings shown in image–include bone aspirate. Labs show pancytopenia. Dx? Outlook?

A

Huge spleen, LAD, pancytopenia, and bone marrow findings all point to Gaucher disease

Parents normal= AR disease

78
Q

Describe the defining characteristics of Fabry’s disease

A

Deficiency of alpha-galactosidase A leading to accumulation of globosides/cereamide trihexoside

This is a VASCULAR disease, first sign is neuropathic pain in the extremities, angiokeratomas (telangiectasias of the skin), kidney damage leading to failure, decreased sweating, tortuous arteries in retina

Renal biopsy shows tluidine blue staining lysosomal inclusions

79
Q

Patient presents with burning pain in extremities, rash noted that has telangiectasias, what other SSx would be seen to make a Dx?

A

Signs of Fabry disease

Sx: decreased sweating, tortuous retinal arteries, reduced alpha-galactosidase A activity in leukocytes, signs of renal insufficiency, toluidine blue inclusions on renal biopsy

80
Q

What kind of disease is MPS?

A

Lysosomal storage

Mucopolysaccharidoses (MPS)

81
Q

What accumulates in MPS diseases?

A

Mucopolysaccharide (glycosaminoglycans) from the ECM

Chains accumulate in tissues

Dermatan Sulfate, Heparan sulfate, Keratan sulfate, chondroitin sulfate

82
Q

How many MPS diseases are there?

A

I-VII but no V

83
Q

What are the common features among MPS diseases?

A

Normal at birth, GAG’s are PAS positive

Depostition in skeletal, ECM causing deformities

Accumulation in macrophages, hepatocytes, endothelial cells

Alder Reilly bodies in neutrophils

Zebra bodies in neurons, mental retardation

Excretion of acid GAG’s in urine

84
Q

What is the first lab test to check for an MPS disease?

A

Presence of acid GAG’s in the urine

85
Q

What is the most common and most severe form of MPS?

A

MPS I H or Hurler syndrome

Life expectancy of 6 years

86
Q

Inheritance of MPS diseases

A

AR in almost all

87
Q

What is deficient in Hurler’s?

A

alpha-L-iduronidase

88
Q

What accumulates in Hurlers and where?

A

Dermatan and heparan sulfate

Phagocytic cells leading to HSM

Fibroblasts causing deformity

Nerurons causing MR

Endothelium and vascular SmM causing subendothelial deposits especially in coronary

89
Q

What diseases have vacuolated neurons that stain PAS positive?

A

MPS diseases

90
Q

What disease has PAS positive cytoplasmic vacuoles, Alder-Reilly bodies in PMN’s, zebra bodies in neurons, clouding of the cornea, growth retardation, coarsening of the facial features, and will likely cause death by age 6?

What other Sx might they have?

A

MPS I H Hurler’s Syndrome

Joint stiffness from deranged collagen synth

Usually die from heart failure or MI

Mental retardation, thickened tongue

HSM also present

91
Q

What treatment is possible for MPS I H?

A

Give alpha-L-iduronidase

Bone marrow transplant

92
Q

What is MPS I S Scheie syndrome?

A

AR MPS disorder similar to Hurler’s but slightly different mutaiton in the alpha-L-iduronidase causing same accumulation

Cornea clouding, but milder course including joint stiffness, normal intelligence, normal longevity

93
Q

What disease is like Hurler’s in many ways but is mor benign?

A

Scheie syndrome

94
Q

Which of the MPS diseases is X-linked?

A

Hunter syndrome

MPS II

95
Q

What is deficient in Hunter syndrome?

A

Iduronate-2-sulfatase

Many sources say different things, but recognize the sulfatase part

96
Q

How are Hunter and Hurler syndrome different?

A

Hunter has no cornea clouding, milder course with death by age 15, affects males only because x-linked instead of AR

97
Q

What is Morquio syndrome?

A

MPS IV

AR disease

Normal intelligence

Accumulation of keratan and chondroitin sulfate

Short stature, joint laxity, coarse features, enlarged tongue

Death because of the short stature limiting their life

Need constant therapy

98
Q

Patient has dysostoses like MPS diseases, a macular red spot like sphingolipidoses, and peripheral demyelination but no excretion of acid GAG’s and accumulation of oligosaccharide

Dx?

A

This is a Mucolipidosis (ML) disease that can look similar to an MPS disease but will have no GAG’s in the urine

99
Q

Cause of Mucolipidoses?

A

Abnormal enzyme processing caused by deficiency of phosphorylating enzyme in golgi needed to make mannose-6-phosphate, the signaling molecule to send proteins to lysosomes

100
Q

What is I-cell disease and its features?

A

Type II Mucolipidosis disease caused by deficiency of phosphotransferase enzyme needed to make mannose-6-phosphate

Early onset: coarse facial features, restricted joint movement, hydrops fetalis

Later onset: psychomotor retardation, kyphoscoliosis, lumbar gibbus

101
Q

Krabbe disease

A

Lysosomal storage disease involving myelin making it a leukodystrophy

AR, deficient in galactosylceramidase

Lipid accumulation–galastosylsphingosine in globoid macrophages

Weakness/stiffness at 3 month, death by 2 yr without marrow transplant

102
Q

Metachromatic leikodystrophy

A

AR, deficient arylsulfatase A

Accumulate sulfatides, esp. cerebroside sulfate

Toluidine-blue staining (metachromasia) vacuolated macrophages

103
Q

What disease is assoc. c deficiency of arylsulfatase A?

A

Metachromatic leukodystrophy

104
Q

What are the enzymes involved with glycogen storage diseases?

A

Hepatic type: Debranching enzyme, Glucose-6-Phosphatase, Lysosomal acid maltase

Myopathic type: Phosphorylase

105
Q

What are the primary Sx differenciating hepatic vs myopathic glycogen storage diseases?

A

Hepatic: low blood sugar

Myopathic: low energy

106
Q

Whan is PAS positive on a stain?

A

When something with sugar in it is present

Glycogen

107
Q

What disease is lacking Glucose-6-phosphatase in cytosol?

A

von Gierke disease (Type I glycogen storage disease)

108
Q

What are the clinical characteristics of von Gierke disease?

A

Glucose 6 phosphatase deficiency in cytosol

Involves chromosome 17

Hepatic/renal enlargement

Glycogen storage vacuoles in cytoplasm/nucleus

Hypoglycemia causing failure to thrive and convulsions

Hyperuricemia from renal failure

Xanthomas

Bleeding from platelet dysfunction

50% mortality without therapy

109
Q

What is Cori’s disease?

A

Type III glycogen storage

Deficiency of debranching enzyme

Accumulation of glycogen in liver, heart, muscle

Stunted growth, hepatomegaly, hypoglycemia

110
Q

What is Andersen disease?

A

Type IV glycogen storage disease

Deficiency of branching enzyme causing accumulation of amylopectin (toxic form of glycogen)

Deposits in liver, heart, muscle, nerves

Death age 2-4 from liver cirrhosis–transplant curative

111
Q

What disease has deficiency of muscle phosphorylase?

A

McArdle disease

Type V glycogen storage disease

112
Q

Features of McArdle disease

A

Type V glycogen storage

Deficiency muscle phosphorylase

Onset late teens, normal longevity

Muscle cramps, weakness with exercise

Lactic acid doesn’t rise with exercise

113
Q

Pediatric patient has difficulty breathing and eating early in life. Found to have massive cardiomegaly and lacks lysosomal alpha-1,4-glucosidase. Dx?

A

Pompe’s disease, Type II glycogen storage in heart, liver, skeletal muscle

Clear glycogen deposits in muscle–PAS positive, muscle hypotonia

Massive cardiomegaly

Death by age 2 from cardio vascular arrest

114
Q

What disease has accumulation of crystalline cystine?

A

Cystinosis–lysosomal storage disease

Crystals in most cells and organs and in urine

Leads to renal failure and rickets

115
Q

What is melanin made from?

A

Tyrosine by Tyrosinase or P transporter

116
Q

Alkaptonuria

A

Lysosomal storage disease

Accumulation of homogentisic acid in collagen and cartilage

Blue-black pigmentation in cartilage of ears and nose called Ochronosis

Severe crippling arthritis at early age

Urine turns dark upon sitting

Hands and feet usually spared

117
Q

Tyrosinemia

A

Lysosomal storage disease

Tyrosine accumulates in blood

Liver problem–hepatomegaly, edema, cabbage odor in first month of life, cirrhosis of liver causing death by age 10

Develop hepatocellular carcinoma

118
Q

Describe Neurofibromatosis type I

A

Autosomal Dominant–variability in expressivity, penetrance is 100%

Tumor suppressor NF-1, Chromosome 17, down regulates p21 ras oncogene protein product

Multiple neurofibromas anywhere on body, cafe au lait spots, pigmented iris hamartomas: lisch nodules–most people get these by age 20

Skeletal involvement: bone erosions from tumors, scoliosis, bone cysts

Mild mental retardation and ADD

Can cause elephantiasis neurofibromatosum

119
Q

What tumors are neurofibroma type I patients at a higher risk for?

A

Meningioma, optic glioma, pheochromocytoma, Wilm’s, rhabdomyosarcoma, myeloid leukemia in kids

120
Q

Describe what makes NF type II unique

A

Multiple schwannomas, bilateral acoustic neuromas, meningiomas, Cafe au lait, no lisch nodules

NF-2 gene

121
Q

What kind of cell is this and what are the characteristic features?

A

Gaucher cell

Wrinkled tissue paper cell, nucleus pushed off to one side, cytoplasm full of lysosomal storage

122
Q

Inheritance of Lesh-Nyhan?

A

X-linked

123
Q

Mutation causing Type O blood?

A

Frameshift

124
Q

Mutation causing Cystic Fibrosis?

A

Deletion without frameshift

125
Q

Mutation causing sickle cell anemia?

A

Missense

126
Q

Mutation causing hereditary spherocytosis?

A

Non coding section causes decrease in product

127
Q

What are the genetic diseases most common in Ashkenazi Jews?

A

1 in 4 carries a gene for one of these diseases:

Gaucher Disease

Cystic Fibrosis

Tay-Sachs

Familial Dysautonomia

Canavan Disease

Pathology Spring Exam 4 (4 decks)

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