Diseases

Question 1

Hemochromatosis

Answer 1

Sex linked AD disorder only present in males

Males have no way of getting rid of the iron when females have mensces and pregnancy

Question 2

Leigh Snydrome

Answer 2

Mt disease (doesn’t need to be). Die at 5 years

No RRF’s

Mt encephalopathy

Question 3

LHON

Answer 3

Maternally inherited (mt disease)

Usually men

Loss of vision

Question 4

KSS and CPEO

Answer 4

RRF’s

Spongy myelinopathy

Question 5

MELAS and MERRF

Answer 5

RRF’s present

Question 6

Hereditary spherocytosis

Answer 6

Mutation in spectrin, unable to bind actin, cell becomes spherical and hypotonic

Question 7

Aneuploidy

Answer 7

Extra or missing chromosomes

Question 8

Turner syndrome karyotype

Answer 8

45 X

Question 9

Kleinfelter karyotype

Answer 9

47 XXY

Male

Question 10

Down syndrome

Answer 10

47 XY +21

Question 11

Robertsonian translocation

Answer 11

Between 14-21 to make isochrome

Question 12

Nondisjunction meiosis 1

Answer 12

Trisomy

Question 13

Nondisjunction meiosis 2

Answer 13

Disomic gamete

Sperm

Question 14

Alcohol and painkillers

Answer 14

Stimulates toxic conversion of acetaminophen

Question 15

Cystic Fibrosis

Answer 15

Recessive disease caused by loss of Cl channel function

CTFR gene

Question 16

Neurofibromatosis Type 1 (NF1)

Answer 16

Mutation in NF1, a GAP gene for Ras

Hyperactive Ras

Question 17

Noonan Syndrome

Answer 17

Mutation that leads to a gain of function

Hyperactive Ras

Question 18

Listeria

Answer 18

Bacterium hijacks Arp 2/3 using WASP/Scar homology

Uses this to comet itself around the cell

Question 19

Karategener syndrome (PCD)

Answer 19

Dynein mutation that results in loss of cilia motility

• respiratory tract infections, male infertility
• cilia lack outer arms

Question 20

Griscelli Type 1

Answer 20

Myosin Va, Rab27A transport protein mutations

• melanosomes not transported
• light skin, hair
• neuron defects

Question 21

Zellweger Syndrome

Answer 21

Defect in recognizing signal of all peroxisomal proteins at receptor
-results in empty peroxisomes

Question 22

Adapting deficiency

Answer 22

Cannot bind coat proteins necessary for cholesterol transport into the cell

-results in hypercholesterolemia

Question 23

Pemphigus foliacous

Answer 23

Between epidermal layers

-spot desmosomes

Question 24

Bullous Pemphigoid

Answer 24

Between epidermis and CT

• due to mast cell
• hemidesmosomes

Question 25

Marian Syndrome

Answer 25

Fibrillin 1 mutation-growth does not have elasticity Long appendages Aortic aneurysm

Question 26

Syndactyly

Answer 26

When toes are fused | -problem in apoptosis

Question 27

Follicular lymphoma

Answer 27

BCL2 over expression due to translocation between 14 and 18 | Buts BCL2 next to highly expressed Ig

Question 28

Sacrococcygeal teratoma

Answer 28

Primitive streak does not fully regress, and pluripotent Epiblast cells proliferate -you can find multiple tissue types in there

Question 29

Trisomy 13

Answer 29

Midline malformation, cleft palate, small eyes HPE in brain, so small head

Question 30

Trisomy 18

Answer 30

Rocker bottom feet, clenched hands, low-set ears Big occipital lobe

Question 31

Nodal over expression

Answer 31

Two headed conjoined twins

Question 32

Not enough nodal expression

Answer 32

Failure of posterior half to develop properly Too much RA Too little FGF

Question 33

Synpolydactly

Answer 33

HOXD13 mutation that results in one little finger

Question 34

Holoprosencephaly (HPE)

Answer 34

- too much Ptch or too little Smo/hh - many cases is SHH halpoinsufficiency - results in high Gli-R activity -cyclopia, single vesicle, single incisor

Question 35

Gli3-R mutations

Answer 35

Post axial polydactyly - extra finger

Question 36

Medulloblastoma

Answer 36

Most common CNS cancer in kids Too much inhibition of Gli3-R Ptch mutations that render it insufficient *treat with vismodegib*

Question 37

Colorectal/gastric cancer

Answer 37

Associate with mutation in APC | Does not breakdown B-catenin

Question 38

Piebaldism

Answer 38

Spotting | Failure of pigment cell migration

Question 39

Hirschsprung's disease

Answer 39

Failure of enteric nervous migration | Mega colon

Question 40

Digeorge syndrome

Answer 40

Pharynx issues due to migration failure Mutation in TBX1 or Crkl---TGF-B and FGF issues - small jaws, low set ears - lots of upper thorax issues

Question 41

Fetal alcohol syndrome

Answer 41

Forced apoptosis of neural and cranial NC cells -flat nose bridge, smooth upper lip

Question 42

Mismatch repair defect

Answer 42

MLH- lynch syndrome

Question 43

NER defect

Answer 43

ERCC1- Xerderma Pigmentosum

Question 44

DSBR mutation

Answer 44

BRCA1/2- breast cancer

Question 45

Sporadic Retinoblastoma

Answer 45

Happens with no genetic predisposition Two-hit hypothesis One eye at first

Question 46

Familial Retinoblastoma

Answer 46

Already start out with one bad copy of Rb | Both eyes, occurs at a younger age

Question 47

P53 mutation and cancer

Answer 47

Most common mutation leading to cancer | Stabilized by p14ARF; destabilized by MDM2

Question 48

Example of Viral Oncogene

Answer 48

V-Src mutation from proto oncogene to oncogene

Question 49

Burkett Lymphoma

Answer 49

C-MYC (TF) duplication or translocation that causes duplication Seen in B lymphocytes Translocation places it behind an antibody gene enhancer

Question 50

Chronic Myelogenous Leukemia (CML)

Answer 50

Translocation (Philly Chromosome) that causes overproduction of a mutated c-abl, a tyrosine kinase --becomes BCR-ABL Will show splits on PCR Activation with no upstream control

Question 51

Multiple Hit Hypothesis and cancer

Answer 51

Attack the oncogene that the tumor needs the most to survive Will cause pathway to crash