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M2M exam 2 > Autosomal dominant > Flashcards

Autosomal dominant Flashcards

1
Q

rare when a _______ dominant mutation causing disease

A

homozygous dominant

AA

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2
Q

example of complete penetrance

A

achondroplasia

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3
Q

achondroplasia is autosomal _____

A

dominant

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4
Q

de novo mutation

A

mutations that occur in the egg or sperm or immediately after fertilzation

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5
Q

de novo mutations would explain

A

autosomal dominant disorder seen in children without affected parents

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6
Q

clinical achondroplasia

A
  1. short
  2. rhizomelic limb shortening
  3. short fingers
  4. genu varum
  5. trident hands
  6. large/frontal bossing
  7. midfacial retrusion
  8. small foramen magnum/ craniocervical instability
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7
Q

achondroplasia is lethal in

A

homozygous dominant state

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8
Q

achondroplasia gene

A

FGFR3

fibroblast growth factor receptor 3

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9
Q

achondroplasia gene funct

A

regulates bone growth by limiting the formation of bone from cartilage

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10
Q

achondroplasia chrom

A

4p16.3

nucleotide 1138

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11
Q

achondroplasia mutation function

A

increases the activity of protein interfering with skeletal development

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12
Q

____ has highest new mutation rate known in man

A

Nucleotide 1138 of FGFR3 gene

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13
Q

Pure dominant

A

Homozygotes and Heterozygotes are both equally affected

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14
Q

incompletely dominant

A

homozygotes are affected most severely

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15
Q

reduced penetrance

A
  1. retinoblastoma
  2. BRCA mutation
  3. huntongton’s disease
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16
Q

variable expressivity examples

A

Neurofibromatosis type 1

osteoogenesis imperfect type 1

17
Q

Neurofibromatosis type 1

new mutation rate

A

50%

18
Q

Neurofibromatosis type 1

clinical

A 
cafe au lair spots
neurofibromas
plexiform neurofibroma
freckling in axilla
optic glioma
lisch nodule
osseous lesions
19
Q

Neurofibromatosis type 1

mutation

A

NF1
neurofibromin tumor suppressor gene
loss of function

20
Q

Neurofibromatosis type 1

chromosome

A

17q11.2

21
Q

locus heterogeneity

A

mutation in more than one locus causing same clinical condition

22
Q

locus heterogeniety example

A

autosomal dominant polycystic kidney disease

23
Q

Autosomal dominant polycystic kidney disease

new mutation rate

A

5%

24
Q

Autosomal dominant polycystic kidney disease

clinical

A
  1. bilateral renal cysts
  2. cysts in other organs
  3. vascular abnormalities
  4. end stage renal disease
25
Q

Autosomal dominant polycystic kidney disease

mutation

A

PKD1 chromosome 16p13.3

PKD2 chromosome 4q22.1

polycystin 1 and 2

produces truncated protein

26
Q

familial hypercholesterolemia

new mutation rate

A

very low

27
Q

familial hypercholesterolemia

clinical manifestations

A

high cholesterol
high LDL levels
xanthomas
premature coronary artery disease and death

28
Q

familial hypercholesterolemia

mutations

A
  1. LDLK
  2. APOB
  3. PCSK9
29
Q

trinucleotide repeat disorders

A
  1. expansion of segment of DNA consisting of 3 or more nucleotides
  2. CAG
  3. slipped mispairings
  4. anticipation
  5. parental transmission bias
  6. AD, AR nd X-linked transmission
30
Q

slipped mispairing

A
  1. mispairings of bases in regions of repetitive DNA replications coupled with inadequate DNA repair systems
  2. as the repeat grows longer, the probability of subsequent mispairings increases
31
Q

anticipation

A

severity and onset of diseases increases in next generation

32
Q

parental transmission bias

A

trinucleotide expansion more prone to occur in gametogenesis of male or female

33
Q

Huntington’s disease:

A
  1. autosomal dominant
  2. trinucleotide repeat disorder (CAG)
  3. anticipation
  4. paternal transmission
34
Q

Huntington’s disease

clinical

A

progressive neuronal degeneration causing motor cognitive and psychiatric distrubences

onset 35-44
death 15 years after onset

35
Q

Huntington’s disease

gene

A

HTT

36
Q

Huntington’s disease protein

A

huntingtin

37
Q

Huntington’s disease chromosome

A

4p16.3

M2M exam 2 (23 decks)

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