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M2M Unit 2 > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

1
Q

autosomal dominant diseases

A
  • myotonic dystrophy 1
  • achondroplasia
  • neurofibromatosis
  • HNPP
  • Marfan syndrome
  • polycystic kidney disease
  • Huntington’s
  • osteogenesis imperfecta
  • charcot marie-tooth type 1A
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2
Q

autosomal recessive

A
  • PKU
  • ATD
  • Tay-Sachs Disease
  • Sandhoff Disease
  • AB-variant of Tay-Sachs
  • Sickle cell
  • cystic fibrosis
  • congenital adrenal hyperplasia
  • 5-alpha reductase deficiency
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3
Q

x-linked dominant

A

-Fragile X syndrome

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4
Q

x-linked recessive

A
  • Duchenne Muscular Dystrophy
  • Hemophilia A
  • testicular feminization
  • dosage sensitive sex reversal
  • Fabry disease
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5
Q

mitochondrial

A
  • Kearns-Sayre
  • MELAS
  • MERRF
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6
Q

Duchenne muscular dystrophy

A
  • Onset around 2 yrs, lose motor function, in wheelchair by 18 yrs, median age at death is 18 yrs; high CK levels, large calves
  • deletions in many exons in Xp21.2 (dystrophin gene); nonsense frameshift
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7
Q

HNPP (hereditary neuropathy with liability to pressure palsies)

A
  • limbs “go to sleep”

- Deletion of PMP22 gene due to unequal crossing over (PMP22 is integral glycoprotein in nerves)

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8
Q

osteogenesis imperfecta type 1

A
  • Brittle bones, increased fractures, blue sclerae

- Loss of Function: nonsense frameshift in COL1A1 (important for collagen strength)

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9
Q

charcot-marie-tooth type 1A

A
  • Demyelinating motor and sensory neuropathy

- Gain of Function: duplication of of PMP22 gene

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10
Q

osteogenesis imperfecta types 2,3,4

A
  • Brittle bones, increased fractures, blue sclerae

- Novel Property Mutation: the COL1A2 protein has new property due to new/different folding, forming collagen trimers

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11
Q

Huntington’s disease

A
  • Progressive neurodegenerative disorder with adult onset
  • Polyglutamate disease; increased CAG repeats
  • Parental transmission bias—trinucleotide expansion more likely to come from father
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12
Q

myotonic dystrophy

A
  • Droopy eyes, intellectual difficulty, hypotonia

- Increased CTG repeats (in 3’ UTR) of DMPK gene

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13
Q

PKU

A
  • Epilepsy, mental retardation, hyperactivity
  • Defect in PAH-phenylalanine hydroxylase enzyme (common) or BH4 cofactor (rare, also have high neurotransmitter imbalance)
  • high phenylalanine in blood
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14
Q

ATD (alpha1-antitrypsin deficiency)

A
  • Late onset: increased risk of developing emphysema, liver cirrhosis/cancer
  • Defective alpha1-AT protein (normally protease inhibitor of elastase; elastase recruited by neutrophil) increased elastase activity decreased elastin in lungs emphysema and lung damage
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15
Q

Tay Sachs

A
  • Progressive neurodegeneration of CNS
  • Screen enzyme activity (at low temp, both enzymes active, at high temp HexA degrades and B still functions) test and DNA test (three mutant alleles account for 95% of cases)
  • Inability to degrade GM2 ganglioside, which aggregates in lysosomes
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16
Q

Sandhoff disease

A
  • symptoms like Tay-Sachs

- Screening enzyme activity shows that both HexA and HexB are inactive (just Hex A in Tay-Sachs)

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17
Q

AB variant of Tay-Sachs

A

-HexA and HexB are normal but GM2 accumulates due to defect in the GM2 activator protein (GM2AP), which facilitates interaction between the lipid substrate and the HexA enzyme within the cell

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18
Q

cystic fibrosis

A
  • thick, sticky mucus, frequent chest infections, and coughing or shortness of breath
  • Mutation of CFTR gene; CFTR protein needed to regulate components of sweat, digestive juices, and mucus by regulating movement of chloride and sodium ion across epithelial membranes
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19
Q

achondroplasia

A
  • rhizomelic limb shortening
  • spinal cord compression; 3-7% die suddenly in during first year
  • Gain of Function:Gly380Arg mutation in FGFR3 Gene (hot spot for mutation)
  • incomplete dominance (homozygous is lethal)
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20
Q

neurofibromatosis type 1

A
  • cafe au let spots, lisch nodules, neurofibromas
  • 100% penetrance
  • variable expressivity
  • Mutation on chr. 17 on NF1 gene
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21
Q

marfan syndrome

A
  • Connective tissue disorder
  • risk of aortic aneurism
  • tall and skinny
  • Mutation in FBN1 mutations (codes for fibrillin)
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22
Q

Fragile X syndrome

A
  • mental deficiency, dysmorphic facies, autism-like
  • premutation can lead to FXTAS or premature ovarian failure
  • Trinucleotide CGG expansion (>200 penetrant, hypermethylation)
  • maternal gene anticipation
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23
Q

hemophilia A

A
  • factor VIII deficiency (clotting)

- can supplement with factor VIII

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24
Q

Turner Syndrome

A
  • 45X
  • Gonadal dysgenesis, short stature, heart defects, fused kidneys, webbed neck, brown nevi, widely spaced nipple, infertility, social difficulty etc.
  • meiotic nondisjunction
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25
Q

Klinefelter’s syndrome

A
  • 47XXY
  • Gonadal dysgenesis/hypogonadism, infertility, tall stature, gynecomastea, high frequency of sterility, language impairment
  • meiotic nondisjunction, failure of recombination
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26
Q

XYY Syndrome

A
  • usually fertile
  • increased risk of behavioral and educational problems, delayed speech and language skills
  • meiotic nondisjunction
  • errors in paternal meiosis II (produce YY)
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27
Q

testicular feminization

A

-feminine features (unresponsive to testosterone)

Absence or abnormality of cytosolic androgen receptor protein

28
Q

congenital adrenal hyperplasia

A
  • Ambiguous genitalia, masculization of females

- overproduction of androgen

29
Q

dosage sensitive sex reversal

A
  • development of ovaries even in the presence of expressed SRY
  • due to duplication of DAX1 gene
30
Q

5-alpha reductase deficiency

A

-5-alpha reductase needed to covert tetosterone to active DHT

31
Q

nonsyndromic deafness

A
  • congenital deafness (AR)
  • progressive childhood deafness (AD)
  • allelic heterogeneity
  • GJB2 most commonly mutated
32
Q

deafness + retinitis pigmentosa

A

Usher syndrome (AR)

33
Q

deafness + arrhythmia or sudden death

A

Jervell and Lange-Neilson (AR)

34
Q

8th nerve schwannoma

A

neurofibromatosis type II

35
Q

Fabry Disease

A
  • reduced sweating, risk of heat stroke; progressive renal failure, heart problems
  • deficiency of alpha-galactosidase
  • chaperone-based or enzyme replacement therapy
36
Q

Down Syndrome

A
  • trisomy 21
  • Mid-face hypoplasia, short stature, hypotonia, moderate intellectual disability
  • nondisjunction in maternal meiosis I (some robertsonian translocation or mosaic)
37
Q

Patau’s syndrome

A
  • trisomy 13

- characteristic face, severe intellectual disability

38
Q

Edward’s syndrome

A
  • trisomy 18 (often translocation 14;18)
  • growth retardation, characteristic facies, severe intellectual disabilities, characteristic hand positioning, hypertonicity
39
Q

Prader-Willi syndrome

A
  • obesity, excessive eating, short stature

- Paternal Del(15q11-q13) accounts for 70% of cases (also uniparental disomy, imprinting center mutation)

40
Q

Angelman syndrome

A
  • Seizures, intellectual disability, unusual facial appearance, short stature, severe intellectual disabilities, prominent chin
  • Maternal Del(15q11-q13)
41
Q

WAGR syndrome

A
  • Wilms tumor, Aniridia, Genitourinary anomalies, Intellectual disability
  • Del(11p13)
  • large enough to test with chromosome testing
42
Q

DiGeorge’s syndrome

A
  • Absent or hypoplastic thymus and parathyroid’s, congenital heart disease
  • Del(22q11.2)
43
Q

acute lymphomatic leukemia (ALL)

A
  • hyperdiploidy
  • enlarged spleen, increased susceptibility to infections, anemia
  • detected by FISH fusion probe
44
Q

chronic myelogenous leukemia (CML)

A
  • Bcr-Abl translocation (9;22) is diagnostic
  • detected by FISH fusion probe
  • treated with Gleevec (tyrosine kinase inhibitor)
45
Q

acute promyeloid leukemia (APL/PML)

A
  • PML-RARA translocation (15;17) is diagnostic
  • Viewing Auer rods (cytosolic precipitation) is diagnostic
  • detected by FISH fusion probe
  • treated with retinoic acid
46
Q

maternally inherited interstitial duplication

A
  • chr15 duplication
  • MATERNALLY inherited
  • seizures, autism, no dysmorphia
47
Q

IDIC15

A
  • chr15 duplication

- seizures, autism, no dysmorphia

48
Q

Gaucher disease

A
  • Hepatosplenomegaly, thrombocytopenia, anemia, join pain, CNS issues
  • autosomal recessive
  • type 1 most common (no CNS issues)
  • Build up of glucocereborsides in macrophage lysosomes due to lack of glucocerebrosidase function
  • treat with ERT
49
Q

Pompe disease

A
  • muscle failure
  • Accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme
  • ERT every two weeks
50
Q

Progeria

A
  • premature aging

- point mutation yielding abnormal progerin protein

51
Q

Hb Kempsey

A
  • Gain of Function: Asp99Asn missense mutation

- Binds oxygen too tightly

52
Q

Hb Kansas

A
  • anemia

- weak binding of oxygen

53
Q

Sickle cell (HbS)

A
  • Novel Property Mutation: Single base mutation at codon#6 in the β-globin gene changes glutamate to valine
  • Diagnosis: when the sequence changes at codon 6, lose a restriction site for MstII
  • liquid chromatography for diagnosis
  • autosomal recessive
54
Q

HbCC

A
  • autosomal recessive
  • single base mutation at codon#6 of the β-globin gene, changing glutamate to lysine
  • milder than sickle cell
55
Q

(–/–)

A
  • common in SE Asia

- stillborn

56
Q

(aa/–)

A

-mild anemia

57
Q

(a-/a-)

A
  • Africa, Mediterranean, Asia

- mild anemia

58
Q

(a-/–)

A
  • HbH disease

- severe anemia

59
Q

Hb Constant Spring

A

-mRNA and protein of constant spring are unstable

60
Q

B-thalassemia major (Cooley’s anemia)

A
  • severe anemia
  • autosomal recessive
  • MCV (circumference of RBC) is low
  • two severely abnormal or absent genes
  • blood transfusions needed
61
Q

B-thalassemia intermediate

A
  • Mild to moderate anemia
  • Low MCV
  • sometimes need transfusions
62
Q

B-thalassemia minor

A
  • heterozygous
  • Almost no clinical presentation (very mild anemia)
  • Normal or low MCV
63
Q

B+-thalassemia

A

-Some β-globin is made so some HbA present

64
Q

B0-thalassemia

A
  • Zero β-globin synthesis so that no HbA is present. (95% is α2γ2 with 5% α2δ2)
  • deletion of the β-globin gene, nonsense or frameshift mutations
65
Q

HPFP

A
  • Symptom free b/c adequate levels of γ chains still made due to the disruption of the perinatal globin switch from γ to β. 100% of hemoglobin is HbF (α2γ2).
  • Increased γ-globin expression:
    (1) extended deletion brings cis-acting enhancer element closer to γ-globin gene
    (2) destroy binding site of a repressor, thereby relieving postnatal repression of γ

M2M Unit 2 (2 decks)

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