Random facts

Question 1

Down’s syndrome: most common time for nondisjunction.

Answer 1

Anaphase I

Question 2

Most common genotype + parental source for complete molar pregnancy.

Answer 2

Genotype: 46, XX

Parental source: paternal

Question 3

HIV resistant genotypes

Answer 3

Homozygous for CCR5 mutation

Question 4

Californians Like Girls in String Bikinis

Answer 4

Layers of the skin:
Corneum (keratin)
Lucidum (glabrous only)
Granulosum
Spinosum (desmosomes)
Basalis (stem cells)

Question 5

At FRC, the intrapleural pressure is ________ and the airway pressures is ____________.

Answer 5

• -5 cm H2O (CW going out, lung pulling in)

- 0 (air no flow)

Question 6

How many calories per gram do you get from fat, carbs, and protein? And EtOH?

Answer 6

Carbs + protein: 4 cals
fat: 9 cals
EtOH: 7 cals

Question 7

Stop codons are:

Answer 7

UGA, UAA, UAG

U Go Away
U Are Away
U Are Gone

Question 8

Amantin from mushrooms inhibits:

Answer 8

RNA pol II (does mRNA)

Question 9

What do P bodies do?

Answer 9

mRNA quality control in the cytoplasm

Question 10

What is AAUAAA?

Answer 10

Poly-adenylation signal

Question 11

DesMin stains for:

Answer 11

Muscle

Question 12

Vimentin stains for:

Answer 12

Mesenchymal tissues (fibroblast, endothel cells, macrophages for sarcoma, etc)

Question 13

Locus v Allelic heterogeneity

Answer 13

Locus: mutations at different loci = same pheno
Allelic: diff mutations at same loci = same pheno

Question 14

Oblivious Female Will Often Give Her Boys Her x-Linked Disorders (X-link rec)

Answer 14

Ornithine transcarbamylase def
Fabry
Wiskott-Aldrich
Ocular albinism
Hunter
Bruton Agammaglobulinemia
Hemophilia A and B
Lesch-Nyhan
Duchenne/Becker

Question 15

Patau

Answer 15

• cleft liP/Plate, holoProsencephaly, Polydactyly (small eyes too)
• Puberty 13

Question 16

Edwards

Answer 16

• small jaw, low-set Ears
• clenched hands with overlapping fingers
• Election 18

Question 17

Cri-du-chat

Answer 17

• microdel of Xosome 5p (p for petit)

- high-pitched mewing/cry, heart defects, microceph, and epicanthal folds

Question 18

Williams

Answer 18

• microdel of 7q

- “elfin” facies, intel disable, hyper Ca+2 (more sensitive to vit D), friendly, CV probs

Question 19

Signs of arsenic poisoning

Answer 19

• vomiting
• garlic breath
• rice-water stool
  (inhibits lipoic acid on pyruvate dehydrogenase)

Question 20

Which histone is one the outside of the core and binds linker DNA?

Answer 20

H1

Question 21

Mitochondria metabolic pathways

Answer 21

• B ox of FA
• TCA cycle
• carboylation of pyruvate (gluconeogenesis)

Question 22

Cytosol metabolic pathways

Answer 22

• glycolysis
• FA synthesis (using citrate to make malonyl CoA)
• pentos phosphate pathway (that uses transketolase and V1)

Question 23

What causes shock in LPS?

Answer 23

Lipid A (Ag O is just a marker of G- bact)

Question 24

NOD2 mutations is assoc with:

Answer 24

Crohn’s dz
- decreased NF-KB leads to decreased cytokine production and innate IS leading to overaction of adaptive IS when gut bacteria get through

Question 25

Tartrate resistant acid phosphatase is assoc with?

Answer 25

Hairy cell leukemia

Question 26

Platelet-derived growth factor receptor mutations are assoc with __________ leukemia.

Answer 26

Chronic myelomonocytic leukemia

Question 27

Peroxidase + leukemia

Answer 27

AML

Question 28

TdT leukemia

Answer 28

ALL

Question 29

Necrolytic migratory erythema (painful rash at groin and legs) and DM

Answer 29

glucagonoma