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abgc > Misc. 1 > Flashcards

Misc. 1 Flashcards

1
Q

What does GINA protect?

A
  • employment

- health insurance

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2
Q

What does GINA not protect?

A
  • life insurance
  • disability
  • long term care
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3
Q

For GINA, what is not considered genetic info?

A
  • sex
  • age
  • routine tests
  • DNA of infectious agents
  • pre-existing conditions (even if they are genetic)
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4
Q

For HIPAA, what geographical identifiers are protected?

A

anything smaller than state (ie county, zip code, etc)

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5
Q

Retinitis pigmentosa

  • description
  • cause
A
  • abnormalities in rods, cones, or retinal pigment epithelium lead to progressive visual loss in early adulthood
  • caused by mutations in >50 genes
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6
Q

Age-related macular degeneration

  • description
  • cause
A
  • vision loss late in life

- multifactorial; many genes may be implicated

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7
Q

What is the most common UPD mechanism?

A

trisomic rescue

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8
Q

What arm(s) do pericentric inversions involve?

A

both

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9
Q

What arm(s) do paracentric inversions involve?

A

one

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10
Q

What is an example of a common pericentric inversion that is a polymorphism?

A

inv(9)(p11q13)

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11
Q

Does it matter from which parent the extra material in triploidy comes from?

A

yes

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12
Q

What is the recurrence risk for a reciprocal translocation when a parent is a carrier? Exceptions?

A

~20%

but 9p and distal 4p and 5p hvae a higher recurrance risk of ~30%

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13
Q

What is pachytene?

A

crossing over

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14
Q

What percentage of inversions are inherited?

A

90%

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15
Q

For what type of cancer does external beam radiation increase risk?

A

osteosarcoma

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16
Q

What isolated fetal ultrasound finding is most likely due to a chromosomal abnormality?

A

cystic hygroma

17
Q

What percentage of balanced reciprocal translocations are inherited?

A

70%

18
Q

Name the trinucleotide repeat disorders

A
  • Huntington
  • SCA
  • DRPLA
  • Kennedy
  • Fragile X
  • Friedreich’s ataxia
  • Myotonic dystrophy
19
Q

What is the Hardy-Weinberg equation?

A

p^2 + 2pq + q^2 = 1

20
Q

Name 2 conditions with overgrowth

A
  • Sotos

- Beckwith-Wiedemann

21
Q

Name 3 conditions with dysmorphic features but normal intellect

A
  • Beckwith-Wiedemann
  • Crouzon
  • Saethre-Chotzen
22
Q

Name 5 conditions with absent speech

A
  • Phelan-McDermid
  • Rett
  • 1p36 deletion
  • Angelman
  • Mowat-Wilson
23
Q

Name 2 conditions with sparse hair findings

A
  • Pallister-Killian

- Sotos

24
Q

Name 2 conditions with self-injurious behavior

A
  • 1p36 deletion

- Smith-Magenis

25
Q

Name 2 conditions with a friendly demeanor

A
  • Angelman

- Williams

26
Q

Name 3 conditions with regression / loss of milestones

A
  • Tay-Sachs
  • Rett
  • Menkes
27
Q

Name 2 conditions associated with ATP7_ genes

A
  • Menkes

- Wilson

28
Q

heritability - definition

A

the fraction of total phenotypic variation of a trait that is caused by genes

29
Q

heritability - equation

A

(%MZ concordance - %DZ concordance) / (100 - %DZ concordance)

30
Q

Which chromosomes have imprinted genes?

A
  • 6 (neonatal diabetes)
  • 7 (growth restriction)
  • 11 (Beckwith/Russel)
  • 14 (skeletal anomales)
  • 15 (Prader/Angel)
31
Q

How many genes does mitochondrial DNA encode?

A

37

32
Q

Which organs are most commonly effected by mitochondrial mutations?

A

those with high energy demands:

  • muscle
  • heart
  • brain
33
Q

Are the effects of monosomy or trisomy typically more severe?

A

monosomy

34
Q

What is a Robertsonian translocation?

A

A reciprocal translocation where the long arms of 2 acrocentric chromosomes fuse at their centromeres

35
Q

Name 6 syndromes resulting from mitochondrial mutations

A
  • Leber’s optic atrophy
  • MELAS
  • MERRF
  • Kearns-Sayre
  • Pearson
  • Leigh
36
Q

What percentage of cases of Down syndrome are due to 47 chromosomes?

A

95%

abgc (34 decks)

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