Genetics Flashcards
X Linked Recessive Diseases
- 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
Wiskott Aldrich
- 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
Epistaxis
Nose bleed
Heteroplasmy
-coexistence of distinct versions of mitochondrial genomes in an individual cell
t(15;17)
- 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
t(12;21)
B-ALL
- more often in kids
- better prognosis
t(9;22)
B-ALL or CML
- more often in adults
- Philadelphia chromosome
- BCR-ABL
Defects of the Interferon Signaling Pathway cause:
Disseminated mycobacterial infection in infancy. Pts require life long prophylaxis with anti mycobacterial agents.
VHL
- ch 3p
- Von hippel lindau
- hemangioma stomp of cerebellum, medulla, or retina
- renal cell carcinoma
- tumor suppressor gene
Cardiac abnormality in Turners?
Biscuspid aortic valve.
KRAS
Protooncogene
Antioncogenes
APC, BRCA1, BRCA2, RB, TP3, NF1, VHL, WT1
Proto Oncogenes
ABL, BRAF, HER1, HER2 (ERB), MYC, RAS, SIS, TGFA, RETAndA
Sickle Cell Mutation
Glutamic acid to valine substitution.
Treacher Collins Syndrome
Abnormal development of first and second pharyngeal arches, resulting in craniofacial abnormalities and abnormal ear ossicles (bones) that can result in hearing loss.
Role of MYC
Nuclear regulatory protein. Can bind DNA.
Retinoblastoma Gene
Tumor suppressor gene.
Hypophosphorylation activates RB and causes prevention of the C1/S cell cycle transition.
t(14;18)
- Follicular lymphoma
- Bcl-2 (B cell lymphoma 2 protooncogene)
BCL2
Follicular Lymphoma, this mutation is associated with a t(14;18) translocation.
Sturge Weber
- congenital neurocutaneous disorder
- cutaneous facial angiomas
- leptomeningeal angiomas
- associated with mental retardation, hemiplegia, and skull radioopacities with tram track appearance
Neurofibromatosis Type 1
- Von Recklinghausen’s disease
- inherited peripheral nervous system tumor syndrome
- neurofibromas , optic nerve gliomas, lisch nodules (pigmented iris), and cafe au lait spots
Neurofibromatosis Type 2
- AD
- nervous system tumor syndrome
- bilateral cranial nerve 8 schwannomas and multiple menigniomas
What is the genetic mutation and location in Burkitt Lymphoma
- c-myc
- t(8;14)
- starry sky appearance
- high grade lymphoma
Genetic Mutation in Neuroblastoma
- n-myc
- frequently originates in adrenal glands
- most common extracranial solid cancer in childhood
Friedreich Ataxia
- AR
- progressive gait ataxia
- impaired joint and vibration sense
- hypertrophic cardiomyopathy (common cause of death)
Pseudodominant Inheritance
- when recessive trait mimics dominant pattern
- mainly occurs in X linked genes
Duchennes
- deletion of dystrophin gene on X chromosome
- dystrophin is a muscle structural protein
- X linked recessive
What genetic translocation is associated with auer rods?
t(15;17)
t(8;14)
- Burkitt Lymphoma
- myc oncogene
Cri Du Chat
Micro deletion of short arm of ch. five.
Microcephaly, intellectual disability, high pitching crying/mewing, epicanthal folds, cardiac abnormalities
Edwards
Trisomy 18 Low labs in all of quad screen Rocker bottom feet Overlapping fingers Small jaw
