Random Genetic Associations Flashcards
Apolipoprotein E-4
Homozygosity for this allele is associated with Alzheimer dementia
*APOlogize 4 your family member with dementia
Alzheimer Gene mutations
- APP gene (chrom 21)
- Presenilin 1 (chrom 14)
- Presenilin 2 (chrom 1)
- Apopolipoprotein E-4 *4 is the importantpart
Only ApE4 is associated with late onset
Mutation in beta myosin heavy chain
Hypertrophic cardiomyopathy
Defective LDL receptor
Familial hypercholesterolemia
Get early atherosclerosis, corenal arcus, tendon xanthomas (esp. on achilles tendon)
HLA-A3
Primary hemochromatosis (mutation in HFE gene)
*He Loves All 3 engine cars (cars have iron)
HLA-DQ2 and HLA-DQ8
Celiac disease(would also see anti-endomysial, anti-tissue transglutaminase, anti-gliadin antibodies)
*memory: I can go 222 Dairy Queen today because I 8888 nothing because I have celiacs and am allergic to everything
HLA-B27
Seronegative spondylarthropathies:
- Ankylosing spondylitis
- Reactive arthritis (Reiter syndrome = conjunctivitis, urethritis, arthritis)
- IBD arthritis
- Psoriatic arthritis
Inactivation of pro-apoptotic BMPR2 gene
side note: Loss of tumor suppressor so need 2 mutations
Familial pulmonary arterial hypertension
PKD1 gene: What chromosome is it on?
Chromsome 16
(autosomal dominant polycystic kidney disease. Get bilateral massive enlargment of kidneys due to multiple large cysts)
Note: PKD2 mutation would be on chrom 4
Familial adenomatous polyposis: What gene mutation, what chromosome?
APC gene on chromosome 5
*memory: 5 letters in ‘polyp’.
Colon must be resected to prevent colon carcinoma
Defect in spectrin or ankyrin proteins
Spherocytosis
Get hemolytic anemia, high MCHC, high RDW. Treat w/ splenectomy. Diagnose with osmotic fragility test.
NOTE: COuld also have defect in band 3 or protein 4.2
High dopamine, low GABA, low Ach in brain
Huntington disease
Get depression, dementia, choreiform movements, caudate atrophy. CAG trinucleotide repeat on chromosome 4. *memory: hunting 4 food
TP53 gene
Li Fraumeni syndrome. Get ‘SBLA’ cancers (sarcoma, breast, leukemia, adrenal gland)
Marfan Syndrome: What gene? What chromosome?
FBN1 gene on Chrom 15
*memory: MARtians are the FaBled oNes (FBN1), picture one martian and 5 humans studying it (1,5)
Note: Get defect in fibrillin (scaffold for elastin). Cystic medial necrosis of aorta, mitral valve prolapse, upward lens subluxation.
RET gene mutatoin
MEN2A and MEN2B syndromes
Neurofibromatosis 1: Gene and chromsosome
NF1 gene on Chrom 17
Neurofibromatosis 2: Gene and chromosome
NF2 gene on chrom 22 *memory: type 2, 22
Von hippel lindau disease: Gene and chrosomsome
VHL gene on Chrom 3
Phe508 mutaiton
cystic fibrosis (chrom 7)
NOTE: mutatoin causes misfolded protein, so it is retained in RER and not transported to cell membrane
Most common lethal genetic disease in Caucasian population
cystic fibrosis
The largest protein-coding human gene
Dystrophin gene (DMD) for Duchennes musclar dystrophy
Note: Long length causes increased chance for spontaneous mutation
Most common muscular dystrophy
Myotonic Dystrophy type 1
Get myotonia (lasting hand grip), muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia, hypersomina, low intellignece, expression-less face
*memory: My Tonia (myotonia), My Testicles (testicular atrophy), My Toupee (frontal balding), My ticket (arrhytmia)
DMPK gene
Myotonic muscular dystrophy type 1, where you get a CTG repeat in the DMPK gene
*DMPK = not DuMb, PricK
Get myotonia (lasting hand grip), muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia, hypersomina, low intellignece, expression-less face
*memory: My Tonia (myotonia), My Testicles (testicular atrophy), My Toupee (frontal balding), My ticket (arrhytmia)
Fragile X syndrome: Gene and mutation
Gene: FMR1
Mutation: CGG repeat
Low beta-HCG in second trimester
Down syndrome, Edward syndrome, or Patau syndrome
HLA-DR2
Multiple sclerosis *mul-2-ple sclerosis
Hay fever *achoo number 2
SLE *#2 for systemic Lou, wait I see also #3
Goodpasture *2 GOOD 2 be true
FGFR3 mutation. Disease? Activating or inactivation?
Achondroplasia
ACTIVATING mutation actually INHIBITS chondrocyte proliferaiton
t(11;22)
Results in EWS-FLI1 protein. Ewing sarcoma
EWS-FLI 1 protein
Ewing sarcoma (due to fusion of 11 and 22)
HLA-DR4
Rheumatoid arthritis (*memory: 4 long fingers for rheumatoid)
Elevated CD4/CD8 Ratio
Sarcoidosis (also see elevated ACE levels, hypercalcemia, and noncaseating granulomas)
Dermatitis herpeteformis. Associated with which disease?
Celiac (IgA cross rects with reticulin fibers that attach epidermis to dermis and end up depositing between the epidermis and dermis, causing little vesicles that look like herpes)
Activating mutation in BRAF kinase
Melanoma
*memory: MEL gibson is Bro-Righteous As F
BRAF V600 E mutation
Melanoma subtype that can be treeated with vemurafenib (direct BRAF kinase inhibitor)
*memory: MEL gibson (Melanoma) is Bro-Righteous As F (BRAF), but he Ventours A More Femininine role (VeMurAFenib) in “what women want”
Activating mutation in GNAQ gene
Sturge-Weber syndrome
Non-inherited (somatic) disease due to anomaly of neural crest derivatives
STURGE = Sporadic, Stain on face in V1/V2 dist, Tram track calcifications (opposing gyri), Unilteral, Retardation, Glaucoma, GNAQ gene, Epilepsy
