Random Genetic Associations

Question 1

Apolipoprotein E-4

Answer 1

Homozygosity for this allele is associated with Alzheimer dementia

*APOlogize 4 your family member with dementia

Question 2

Alzheimer Gene mutations

Answer 2

1. APP gene (chrom 21)
2. Presenilin 1 (chrom 14)
3. Presenilin 2 (chrom 1)
4. Apopolipoprotein E-4 *4 is the importantpart

Only ApE4 is associated with late onset

Question 3

Mutation in beta myosin heavy chain

Answer 3

Hypertrophic cardiomyopathy

Question 4

Defective LDL receptor

Answer 4

Familial hypercholesterolemia

Get early atherosclerosis, corenal arcus, tendon xanthomas (esp. on achilles tendon)

Question 5

HLA-A3

Answer 5

Primary hemochromatosis (mutation in HFE gene)

*He Loves All 3 engine cars (cars have iron)

Question 6

HLA-DQ2 and HLA-DQ8

Answer 6

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

Question 7

HLA-B27

Answer 7

Seronegative spondylarthropathies:

• Ankylosing spondylitis
• Reactive arthritis (Reiter syndrome = conjunctivitis, urethritis, arthritis)
• IBD arthritis
• Psoriatic arthritis

Question 8

Inactivation of pro-apoptotic BMPR2 gene

side note: Loss of tumor suppressor so need 2 mutations

Answer 8

Familial pulmonary arterial hypertension

Question 9

PKD1 gene: What chromosome is it on?

Answer 9

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

Question 10

Familial adenomatous polyposis: What gene mutation, what chromosome?

Answer 10

APC gene on chromosome 5

*memory: 5 letters in ‘polyp’.

Colon must be resected to prevent colon carcinoma

Question 11

Defect in spectrin or ankyrin proteins

Answer 11

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

Question 12

High dopamine, low GABA, low Ach in brain

Answer 12

Huntington disease

Get depression, dementia, choreiform movements, caudate atrophy. CAG trinucleotide repeat on chromosome 4. *memory: hunting 4 food

Question 13

TP53 gene

Answer 13

Li Fraumeni syndrome. Get ‘SBLA’ cancers (sarcoma, breast, leukemia, adrenal gland)

Question 14

Marfan Syndrome: What gene? What chromosome?

Answer 14

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.

Question 15

RET gene mutatoin

Answer 15

MEN2A and MEN2B syndromes

Question 16

Neurofibromatosis 1: Gene and chromsosome

Answer 16

NF1 gene on Chrom 17

Question 17

Neurofibromatosis 2: Gene and chromosome

Answer 17

NF2 gene on chrom 22 *memory: type 2, 22

Question 18

Von hippel lindau disease: Gene and chrosomsome

Answer 18

VHL gene on Chrom 3

Question 19

Phe508 mutaiton

Answer 19

cystic fibrosis (chrom 7)

NOTE: mutatoin causes misfolded protein, so it is retained in RER and not transported to cell membrane

Question 20

Most common lethal genetic disease in Caucasian population

Answer 20

cystic fibrosis

Question 21

The largest protein-coding human gene

Answer 21

Dystrophin gene (DMD) for Duchennes musclar dystrophy

Note: Long length causes increased chance for spontaneous mutation

Question 22

Most common muscular dystrophy

Answer 22

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)

Question 23

DMPK gene

Answer 23

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)

Question 24

Fragile X syndrome: Gene and mutation

Answer 24

Gene: FMR1
Mutation: CGG repeat

Question 25

Low beta-HCG in second trimester

Answer 25

Down syndrome, Edward syndrome, or Patau syndrome

Question 26

HLA-DR2

Answer 26

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

Question 27

FGFR3 mutation. Disease? Activating or inactivation?

Answer 27

Achondroplasia

ACTIVATING mutation actually INHIBITS chondrocyte proliferaiton

Question 28

t(11;22)

Answer 28

Results in EWS-FLI1 protein. Ewing sarcoma

Question 29

EWS-FLI 1 protein

Answer 29

Ewing sarcoma (due to fusion of 11 and 22)

Question 30

HLA-DR4

Answer 30

Rheumatoid arthritis (*memory: 4 long fingers for rheumatoid)

Question 31

Elevated CD4/CD8 Ratio

Answer 31

Sarcoidosis (also see elevated ACE levels, hypercalcemia, and noncaseating granulomas)

Question 32

Dermatitis herpeteformis. Associated with which disease?

Answer 32

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)

Question 33

Activating mutation in BRAF kinase

Answer 33

Melanoma

*memory: MEL gibson is Bro-Righteous As F

Question 34

BRAF V600 E mutation

Answer 34

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”

Question 35

Activating mutation in GNAQ gene

Answer 35

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