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ABGC exam prep > General genetics / metabolic 4 > Flashcards

General genetics / metabolic 4 Flashcards

1
Q

connexin 26

A

the protein produced by the GJB2 gene

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2
Q

connexin 30

A

the protein produced by the GJB6 gene

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3
Q

DFNB1
definition
features
cause

A
  • non-syndromic hearing loss and deafness
  • congenital, profound deafness (non-syndromic)
  • caused by mutations (AR) in GJB2 and GJB6 genes
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4
Q

Waardenburg syndrome
features
gene(s)
inheritance

A
  • pigmentary abnormalities (white forelock; irises); sensorineural hearing loss
  • many genes
  • AD inheritance
  • *most common type of AD syndromic hearing loss**
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5
Q

Brachio-oto-renal syndrome
features
gene(s)
inheritance

A
  • hearing loss; branchial cleft cysts; renal anomalies; ear pits
  • many genes
  • AD inheritance
  • *second most common type of AD syndromic hearing loss**
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6
Q

Treacher Collins syndrome
features
gene(s)
inheritance

A
  • ear abnormalities -> hearing loss; hypoplasia of mandible; colobomas of lower eyelids; cleft palate; trach
  • TCOF1 gene
  • AD
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7
Q

Stickler syndrome
features
gene(s)
inheritance

A
  • progressive hearing loss; midfacial underdevelopment and cleft palate (Robin sequence); ocular findings
  • COL.. genes
  • AD inheritance
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8
Q

Usher syndrome
features
gene(s)
inheritance

A
  • sensorineural hearing loss; retinitis pigmentosa
  • several genes
  • AR inheritance
  • *most common type of AR syndromic hearing loss**
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9
Q

Pendred syndrome
features
gene(s)
inheritance

A
  • hearing loss; euthyroid goiter
  • many genes
  • AR inheritance
  • *second most common type of AR syndromic hearing loss**
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10
Q

Jervell and Lange-Nielsen syndrome
features
gene(s)
inheritance

A
  • sensorineural hearing loss; prolonged QT interval; syncope/sudden cardiac death
  • KCN.. genes
  • AR inheritance
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11
Q

Alport syndrome
features
gene(s)
inheritance

A
  • progressive sensorineural hearing loss after age 10y; renal disease; opthalmalogic findings
  • several genes
  • all inheritance types, most common: XL
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12
Q

Fragile X
features
gene(s)
inheritance

A
  • affected males: moderate ID; hypotonia; recurrent otitis media; DD; hyperactivity; hand-flapping/biting; impulse control problems; large head and characteristic facies
  • FMR1 gene
  • XL inheritance
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13
Q

Fragile X

repeat breakdown

A
  • CGG trinucleotide repeats
  • intermediate (45-54) may expand
  • premutation (55-200) may expand
  • full (>200) results in methylation of FMR1 gene
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14
Q

Fragile X

what percentage of affected individuals have deletions or point mutations?

A

<1%

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15
Q

FXTAS
features
gene(s)
inheritance

A
  • Fragile X - associated tremor/ataxia syndrome; diagnosed by white matter lesions on MRI; onset >50y
  • FMR1 gene; male and female with premutation at risk for
  • XL inheritance
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16
Q

FXPOI
features
gene(s)
inheritance

A
  • Fragile X - related primary ovarian insufficiency; cessation of menses <40y
  • FMR1 gene; female premutation carriers at risk for
17
Q

Name 2 cardiomyopathies

A
  • hypertrophic cardiomyopathy (HCM)

- arrhythmogenic right ventricular cardiomyopathy (ARVC)

18
Q

Name 2 hereditary arrhythmias

A
  • Long QT syndrome

- Brugada

19
Q

Name 1 familial lipid disorder

A

Familial hypercholesterolemia (FH)

20
Q

Do hereditary arrhythmias involve structural changes to the heart?

A

no

21
Q

Do cardiomyopathies involve structural changes to the heart?

A

yes

22
Q

Alpha-1 antitrypsin deficiency
features
gene(s)
inheritance

A
  • may cause lung and liver disease in adulthood
  • SERPINA gene
  • autosomal codominant
23
Q

Which metabolic disorder can mimic Marfan syndrome?

A

homocystinuria

24
Q

Which metabolic disorder is more common among Mennonites?

A

MSUD

25
Q

Which metabolic condition leads to a “sweaty feet” odor?

A

PKU

26
Q

Name 4 metabolic disorders that are X-linked?

A
  • OTC
  • Adrenoleukodystrophy
  • Fabry disease
  • Hunter syndrome
27
Q

G6PD
features
gene(s)
inheritance

A
  • hemolytic anemia, jaundice
  • G6PD gene
  • XL inheritance
28
Q

VATER
features
gene(s)
inheritance

A
  • presence of at least 3 of:
  • -vertebral defects
  • -anal atresia
  • -cardiac defects
  • -tracheo-esophageal fistula
  • -renal anomalies
  • -limb abnormalities
  • cause unknown / largely sporadic
29
Q

Hereditary hemorrhagic telangiectasia
features
gene(s)
inheritance

A
  • abnormalities in blood vessels (arteriovenous malformations) leading to red markings (telangiectases); nosebleeds and hemorrhaging
  • ACVRL1, ENG, SMAD4 genes
  • AD inheritance
30
Q

Limb-girdle muscular dystrophy
features
gene(s)
inheritance

A
  • typically non-syndromic involving skeletal muscle weakness
  • many genes
  • AD, AR inheritance

ABGC exam prep (11 decks)

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