Genetic diseases pg 87-91 Tell genetics of the disease and fun facts asked about it

Question 1

Chromosome of autosomal dominant polycystic kidney disease?

Answer 1

PKD1 is 85% and chromosome 16 (16 letters in polycistic kidney) and the rest are in PKD2 and chromosome 4 (4 letters in PKD2)

Question 2

Familial adenomatous polyposis is on which chromosome?

Answer 2

Autosomal dominant. Chromosome 5 (five letters in polyp)

Question 3

Familial hypercholesterolemia is what genetic pattern?

Answer 3

Autosomal dominant. LDL receptor is fucked up

Question 4

Hereditory hemorrhagic telangectasia is what?

Answer 4

Autosomal dominant. AKA osler-weber-rendu. get arteriovenous malformations and GI bleeding and hematuria

Question 5

Heriditary spehorocytosis is deficiency in what? how do you treat it?

Answer 5

Autosomal dominant. Spectrin or ankyrin. Splenectomy (remember to vaccinate after!)

Question 6

Huntington disease has what going on in the brain? What chromosome? What is the issue in the chromosome?

Answer 6

Autosomal dominant. Low levels of GABA and ACh in the brain. Chromosome 4 b/c HUNTING 4 food. CAG repeats is the problem (think nick CAGe is dancing (chloroform))

Question 7

Marfan is mutation of what gene?

And yeah we know common symptoms, but what about heart valve and lens, what is going on?

Answer 7

Autosomal dominant. Fibrillin 1.

Mitral valve is floppy
Subluxation of lens upward and temporally

Question 8

Multiple Endocrine Neoplasias. What are the genes associated with for type 1 and 2a/b?

Answer 8

Autosomal dominant.

MEN1 is menin (tumor suppressor, brad pit is turn off)
MEN2’s are ret gene (turn on, medullary thyroma with C cells b/c John Cleese is a turn on)

Question 9

How does neurofibromatosis type one present? What chromosome is it? What gene is involved

Answer 9

Autosomal dominant. CAFE AU LAIT spots and cutatneous fibromas. Chromosome 17 (easy to remember b/c aka von recklinghausen and that has 17 letters, but thats a bitch to spell. But coffee stunts growth, so legal coffee age should be 17 to help us remember b/c cafe means coffee).

Question 10

Neurofibromatosis type 2 presents how? What is the chromosome?

Answer 10

Autosomal dominant. Acoustic schwannomas, juvenile cataracts, menigngiomams and ependymomas. NF2 is on chromosome 22 (lots of 2’s, easy to remember)

Question 11

How does tuberous sclerosis present?

Answer 11

Autosomal dominant. Multi organs having benign hamartomas. Incomplete penetrance and variable expression

Question 12

Von Hippel Lindau presents as how? What chromosome is it?

Answer 12

Autosomal dominant.
Numerous tumors, benign and malignant.
Renal Cell carcinoma and hemangioblastoma.

3 words, so chromosome three. Von hippel lindau

Question 13

Albinism can be caused by a problem in 1 of what three things?

Answer 13

Autosomal recessive

1. tyrosinase deficient (can’t produce melanin)
2. tyrosine transport
3. Failure of neural crest cell migration during devo

Question 14

What are you worried about with ARPKD?

Answer 14

Autosomal recessive polycistic kidney disease causes POTTER SYNDROME and/or progression to renal insufficiency in

Question 15

Genetics of cystic fibrosis? What chromosome is CFTR on? What is CFTR?

Answer 15

Autosomal recessive.
Chromosome 7.
CFTR is ATP gated Cl channel to secrete Cl in lungs, GI, and reabsorbs in sweat glands. MUTATIONS cause lack of transport from RER and can’t get to cell membrane.

Question 16

Glycogen storage disease are what genetically?

Answer 16

Autosomal recessive. Makes sense, the enzymes would be able to compensarte

Question 17

Hemochromatosis is caused by what problem? What cancer are you at higher risk for?

Answer 17

Autosomal recessive.
HFE mutation (can’t stop absorbing iron)
Hepatocellular carcinoma risk (b/c so much damn iron in blood)

Question 18

Kartagener can present as how? What is the defect?

Answer 18

Autosomal recessive. in effected dynein in cilia (microtubules no worky).
Situs inversis and dextrocardia and infertility b/c sperm or fallopian cilia suck (increased ectopic risk). Recurrent sinus infections and bronchiectasis b/c can’t clear mucus

Question 19

Hurler syndrome presents as how? What is the problem?

Answer 19

Autosomal recessive
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
Alpha L iduronidase is worthless so lots of heparin sulfate and derma tan sulfate

Question 20

Phenylketonuria presents as how

Answer 20

Autosomal recessive
Phenylalaine Hydroxylase sucks.
Musty smelling urine and intellicutal disability

Question 21

What sphingolipidose is not autosomal recessive? How is it inherited?

Answer 21

Fabry disease is X linked recessive

Question 22

Thalassemias are inherited how?

Answer 22

Autosomal recessive

Question 23

How do you treat Wilson disease? What chromosome? What gene? What is the marker in serum?

Answer 23

Autosomal recessive
Penicillamine or trientine
IT IS THE CAST AWAY DISEASE (Wilson Ball, weird eyes, ATP7B deficiency which is hepatocyte copper transporter [B is for Ball]
Chromosome 13 b/c Cast away is rated pg13)
Ceruloplsamin is fun as shit to say, so easy to remember.
Bonus, the ey thing is Kayser-Fleischer ring, golden border around cornea

Question 24

Lets make X-Linked diseases easy to remember. What is the Mnemonic?

Answer 24

Be Wise, Fool's GOLD Heeds Silly HOPe.
Bruton agammaglobulinemia
Wiskott-Aldrich Sndrome
Fabry Disease
G6PD deficiency
Ocular albinism
Lesch Nyhan
Duchenne (and Becker) dystrophy
Hunter Syndrome
Hemophilia A and B
Ornithine transcarbamylase deficiency

Question 25

Are females affected by X recessive?

Answer 25

Depends on amount of inactivation of X chromosome carrying mutant vs normal gene

Question 26

What are the 4 trinucleotide repeat expansion diseases?

Answer 26

Try (trinucleotide) HUNTING for MY FRIED EGGS (X)

Huntington CAG
Myotonic dystrophy CTG
Friedrich ataxia GAA
fragile X syndrome CGG

Question 27

What is fragile X?

Answer 27

X linked defect. Xtra large testes, jaw and ears. 2nd biggest cause of intellectual deficiency. MVP can happen and mitral valve prolapse

Question 28

Which chromosomes are associated with each of the trisomies? What do you see in quad screening?

Answer 28

All associated with congen heart defects.

Downs: 21. down alpha fetoprotein, up beta hCG, down estriol, up inhibit A (every other alphabetically)

Edwards: 18 (Election age 18). down every thing in first trimester quad screen.

Patau Syndrome: 13 (puberty) down every thing in first trimester. Also has nuchal translucency like down does

Question 29

Patau syndrome description?

Answer 29

13 trisomy. P (patau) disease. cleft Palate, Polydactyly, holoProsencephaly and congenital heart disease. Death in first you.

Question 30

Edwards syndrome description?

Answer 30

E disease. Election age 18 chromosome. Eears are low set, clenched hand, rocker feet, prominent occiput.

Question 31

What is cir du chat and the genetic characteristic?

Answer 31

5p- (micro deletion of short arm of chromosome 5). Youtube video of kid describing it. Had a smaller head, intellectual disability, VSD

Question 32

What is williams syndrome?

Answer 32

Microdeletion of long arm of 27. Elfin faces (first time elfin came to use was to describe them), intellectual disability, sensitive to vitamin D, friendly with strangers

Question 33

What causes DiGeorge syndrome?

Answer 33

22q11 deletion. Thymic and parathyroid and cardiac defects. Due to bad deco of 3rd or 4th branchial pouches

Question 34

What is velocardiofacial syndrome?

Answer 34

22q11 deletion causing palate, facial and cardiac issues

Question 35

What is Prader-Willi, how is it caused (2 ways)?

Answer 35

Maternal imprinting: gene from mom is originally silent. so the P is for PATERNAL deletion/mutation.

Alternative cause: 2 maternal imprinted genes are received and no paternal, makes sense, they are silenced so it is lost anyway)

hypephagia, obesity, retarded, hypogonad and hypotonia (babies may be small b/c can’t eat with low tone)

Question 36

Angelman syndrome, how is it caused? What is it?

Answer 36

Paternal imprinting (dad is normally silent) and Maternal is deleted/mutated (mom is an angel!).

Also two paternally imprinted genes can be received without a maternal, makes sense.

You see inappropriate laughter (happy puppet) and seizure, ataxia and severe intellectual disability.

Question 37

What is essential fructosuria? How is it treated?

Answer 37

Autosomal recessive. Fructokinase deficient. Benign. You see fructose in pee and blood.

Question 38

What is fructose intolerance?

Answer 38

Autosomal recessive. Aldolase B is deficient Problem b/c after fructokinase step, so you make fructose 1-P and you have a phosphate sink which is bad. Treatment, no more frutose or sucrose (boring, sorry).