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Step 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

X Linked Recessive Diseases

A
  • Hemophelia A and B
  • duchenne muscular dystophy
  • becker muscular dystrophy
  • X-linked agammaglobulinemia
  • Alport Syndrome
  • fabry disease
  • hunter syndrome
  • lesch nyhan
  • wiskott aldrich
  • X linked SCID
  • G6PD Deficiency
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2
Q

Wiskott Aldrich

A
  • three cardinal findings: eczema, recurrent infections, thrombocytopenia
  • X linked
  • petichiae, purpura, epstaxis (nosebleed), inc. bleeding time
  • combined B and T lymphocyte disorder
  • tx: HLA matched bone marrow transplantation
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3
Q

Epistaxis

A

Nose bleed

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4
Q

Heteroplasmy

A

-coexistence of distinct versions of mitochondrial genomes in an individual cell

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5
Q

t(15;17)

A
  • acute promyelocytic leukemia (APML)
  • translocation involving retinoic acid receptor alpha (RARA) on ch.17 and PML gene on ch. 15 -> PML/RARA
  • inhibits differentiation of myeloblasts
  • bone marrow shows promyelocytes with intracytoplasmic auer rods
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6
Q

t(12;21)

A

B-ALL

  • more often in kids
  • better prognosis
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7
Q

t(9;22)

A

B-ALL or CML

  • more often in adults
  • Philadelphia chromosome
  • BCR-ABL
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8
Q

Defects of the Interferon Signaling Pathway cause:

A

Disseminated mycobacterial infection in infancy. Pts require life long prophylaxis with anti mycobacterial agents.

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9
Q

VHL

A
  • ch 3p
  • Von hippel lindau
  • hemangioma stomp of cerebellum, medulla, or retina
  • renal cell carcinoma
  • tumor suppressor gene
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10
Q

Cardiac abnormality in Turners?

A

Biscuspid aortic valve.

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11
Q

KRAS

A

Protooncogene

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12
Q

Antioncogenes

A

APC, BRCA1, BRCA2, RB, TP3, NF1, VHL, WT1

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13
Q

Proto Oncogenes

A

ABL, BRAF, HER1, HER2 (ERB), MYC, RAS, SIS, TGFA, RETAndA

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14
Q

Sickle Cell Mutation

A

Glutamic acid to valine substitution.

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15
Q

Treacher Collins Syndrome

A

Abnormal development of first and second pharyngeal arches, resulting in craniofacial abnormalities and abnormal ear ossicles (bones) that can result in hearing loss.

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16
Q

Role of MYC

A

Nuclear regulatory protein. Can bind DNA.

17
Q

Retinoblastoma Gene

A

Tumor suppressor gene.

Hypophosphorylation activates RB and causes prevention of the C1/S cell cycle transition.

18
Q

t(14;18)

A
  • Follicular lymphoma

- Bcl-2 (B cell lymphoma 2 protooncogene)

19
Q

BCL2

A

Follicular Lymphoma, this mutation is associated with a t(14;18) translocation.

20
Q

Sturge Weber

A
  • congenital neurocutaneous disorder
  • cutaneous facial angiomas
  • leptomeningeal angiomas
  • associated with mental retardation, hemiplegia, and skull radioopacities with tram track appearance
21
Q

Neurofibromatosis Type 1

A
  • Von Recklinghausen’s disease
  • inherited peripheral nervous system tumor syndrome
  • neurofibromas , optic nerve gliomas, lisch nodules (pigmented iris), and cafe au lait spots
22
Q

Neurofibromatosis Type 2

A
  • AD
  • nervous system tumor syndrome
  • bilateral cranial nerve 8 schwannomas and multiple menigniomas
23
Q

What is the genetic mutation and location in Burkitt Lymphoma

A
  • c-myc
  • t(8;14)
  • starry sky appearance
  • high grade lymphoma
24
Q

Genetic Mutation in Neuroblastoma

A
  • n-myc
  • frequently originates in adrenal glands
  • most common extracranial solid cancer in childhood
25
Q

Friedreich Ataxia

A
  • AR
  • progressive gait ataxia
  • impaired joint and vibration sense
  • hypertrophic cardiomyopathy (common cause of death)
26
Q

Pseudodominant Inheritance

A
  • when recessive trait mimics dominant pattern

- mainly occurs in X linked genes

27
Q

Duchennes

A
  • deletion of dystrophin gene on X chromosome
  • dystrophin is a muscle structural protein
  • X linked recessive
28
Q

What genetic translocation is associated with auer rods?

A

t(15;17)

29
Q

t(8;14)

A
  • Burkitt Lymphoma

- myc oncogene

30
Q

Cri Du Chat

A

Micro deletion of short arm of ch. five.

Microcephaly, intellectual disability, high pitching crying/mewing, epicanthal folds, cardiac abnormalities

31
Q

Edwards

A 
Trisomy 18
Low labs in all of quad screen
Rocker bottom feet
Overlapping fingers
Small jaw

Step 1 (23 decks)

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