Block 1

Question 1

hemolytic anemia

Answer 1

G6PD deficiency
G6PD normally produces glutathione which help protect from oxidation by ROS

Question 2

LCAT deficiency

Answer 2

cholesterol deposit in tissues

Question 3

lipoprotein lipase deficiency

Answer 3

chylomicron accumulation

Question 4

lead poisoning affects what pathway

Answer 4

affects heme synthesis pathway

Question 5

chronic granulomatous disease inheritance

Answer 5

x linked

Question 6

chronic granulomatous disease

Answer 6

no NADPH oxidase= no superoxide dismutase= no oxidative burst to kill bacteria

Question 7

myeloperoxidase deficiency

Answer 7

no oxidative burst to kill bacteria

Question 8

Chediak-Higashi syndrome

Answer 8

no LYST protein= no phagolysosome formation= phagocytosed microbes remain in giant vacuoles in cell

Question 9

xeroderma pigmentosum

Answer 9

defect in nucleotide excision repair of damaged DNA leaves patients extremely photosensitive and susceptible to skin cancers

Question 10

xeroderma pigmentosum inheritance

Answer 10

autosomal recessive

Question 11

hereditary non-polyposis colorectal cancer (Lynch syndrome)

Answer 11

deficiency in ability to repair mismatched bases

Question 12

Grey Baby Syndrome

Answer 12

treatment of newborns with cholramphenicol leads to blue-grey lips, nails, and skin
newborns don’t have the enzyme needed to metabolize the drug

Question 13

I cell disease

Answer 13

failure to create mannose-6-phosphate leads to buildup of inclusion bodies
mental retardation, gingival hypertrophy, growth retardation

Question 14

scurvy

Answer 14

vitamin C deficiency= defect in collagen production

Question 15

Menkes disease

Answer 15

mutation in copper efflux protein–> decreased copper in blood–> decreased activity of lysyl oxidase–> defective collagen

Question 16

cystic fibrosis

Answer 16

mutation in CFTR gene leads to deletion of phenylalanine at position 508, decreasing post-translational glycosylation
mucous production increases

Question 17

alpha-thalassemia

Answer 17

large segment deletion of alpha-globin genes on chromosome 16
deformed RBC w/ decreased O2 carrying
symptomatic if 3 out of 4alpha globin genes are affected, lethal if 4/4

Question 18

cri-du-chat

Answer 18

large segment deletion at end of chromosome 5

Question 19

beta-thalassemia

Answer 19

splice-site mutation in Hb genes–> misshaped RBC–> splenomegaly+deformities of facial and other bones (overactive spleen activity to clear RBC and overactive bone marrow to produce RBC)

Question 20

Tay-Sachs

Answer 20

splice-site mutation in beta-hexoaminidase A (HEXA) gene
cherry spot on retina

Question 21

Gaucher disease

Answer 21

splice-site mutation in glucocerebrosidase gene
lysosomal storage disorder

Question 22

Huntington’s disease

Answer 22

CAG repeat adds glutamine
autosomal dominant

Question 23

spinal muscular atrophy

Answer 23

CAG repeats in androgen receptor region or recessive mutation in SMN1&2 genes
autosomal dominant

Question 24

fragile X

Answer 24

CGG repeats in 5’ UTR of FMR1 gene on X chromosome
increased methylation due to increased CG–> decreased gene expression

Question 25

myotonic muscular atrophy

Answer 25

CTG repeats in 3’ UTR of DMPK gene
negative affect on muscle function

Question 26

Friedreich’s ataxia

Answer 26

GAA repeats in intron 1 of FXN gene
autosomal recessive

Question 27

emphysema and liver cirrhosis as a result of alpha-1-antitrypsin (A1AT) activity

Answer 27

serpina1 gene mutation–> no serine protease inhibitor–> reduced A1AT
–> excessive protease activity destroys alveoli walls and build up in liver
co-dominant inheritance

Question 28

Zellweger syndrome

Answer 28

mutant zinc finger transcription factor due to PPAR mutation
malfunctioning cellular peroxisomes, reducing lipid catabolism, leading to accumulation of long chain fatty acids
death in early childhood

Question 29

Klein Waardenburg syndrome

Answer 29

mutation in PAX-3 , affects a homeotic gene

deafness, frontal white blaze of hair

Question 30

Angelman syndrome

Answer 30

deletion on maternal 15q11

Question 31

Prader-Willi syndrome

Answer 31

deletion on paternal 15q11

Question 32

Angelman and Prader-Willi syndrome are due to gender specific __ (___) of genes

Answer 32

methylation (imprinting)

Question 33

Wernicke-Korsakoff

Answer 33

thiamine deficiency (vitamin B1)

Question 34

Niemann-Pick disease symptoms

Answer 34

foam cells in bone marrow
seizures
lysosomal enzyme deficiency
autosomal recessive

Question 35

Severe Combined Immuno-deficiency (SCID)

Answer 35

defective adenine deaminase=immune system to not work