Sickle Cell anemia

Question 1

How many genes can give rise to alpha thalassemia?

Answer 1

4 alpha genes

Question 2

What’s the mut in HbI?

Answer 2

Lys16glu

Question 3

Purine synthesis is regulated by inhibition/activation @ which 2 ezs?

Answer 3

PRPP synthetase and Glutamine PRPP aminotransferase

Question 4

What genetic analytical technique is used to detect small deletions/duplications of 1 exon, multiple exons, or the entire gene?

Answer 4

Multiple Probe Ligation Amplification (MLPA)

Question 5

Used for DNA fingerprinting?

Answer 5

Minisattellites

Question 6

occurs in coding and noncoding parts of DNA and hotspots for mutation and its due to DNA slippage and could affect reading frame ?

Answer 6

Microsatellites

Question 7

UVB and UVC: thymine dimers and corrected by

Answer 7

NER (nucleotide exicism repair)

Question 8

Repair purine loss, 8-oxoguanine

Answer 8

Base excision repair pathway

Question 9

MUTYH

Answer 9

involved in 8-oxoguanine repair

Question 10

Repairs replication errors, mismatched nucleotides, microsatellites, heterodimer protein complex recognize and cleave

Answer 10

Mismatch repair pathway

Question 11

role in repair of ssDNA, base and inhibitors used in hereditary breast cancer

Answer 11

PARP1 -Poly ADP ribose polymerase 1-

Question 12

Haploinsufficiency

Answer 12

50% of gene not being there

Question 13

Mosaicism

Answer 13

two distinct genetics in germ line cells

Question 14

Mitochondrial inheritance

Answer 14

maternal inheritence

Question 15

Physical modification of DNA

Answer 15

DNA loss and DNA gain

Question 16

Chemical mod of DNA

Answer 16

Methylation (X-inactivation and imprinting)

Question 17

macromolecular crowding

Answer 17

there is a larger effective volume, increased rate of association, and decrease solubility and increase the rate of aggregation

Question 18

change cis and trans to aid protein folding

Answer 18

Peptidyl cic-trans isomerase

Question 19

Protein disulfide isomerase

Answer 19

found in ER

Question 20

Small heat shock

Answer 20

ATP INDEPENDENT

Question 21

LOW MW:

Answer 21

ATP DEPENDENT: TRANSIENT BINDING WITH HYDROPHOBIC

Question 22

Chaperonins:

Answer 22

group 1 and Group II ATP DEPENDENT, ISOLATES SUBSTRATES–afinsin cage

Question 23

autosomal dominant –mut in ANK1–cytoskeleton protein, found in chronic hemolytic anemia

Answer 23

Hereditary spherocytosis

Question 24

seen in post splenectomy and liver disease–excess lipid

Answer 24

target cells

Question 25

Fragmented RBC, helmet cells, by shear/mechanical force: heart valaves, fibrin strands/clots, and microangiopathic anemias, malignant hypertension

Answer 25

schistocytes

Question 26

basophilic stipplings is found in

Answer 26

alcoholism, arsenic poisoning, thalassemias, lead poisoning

Question 27

Mb curve shape and why

Answer 27

hyperbolic, for storage

Question 28

Hb curve shape and why

Answer 28

Sigmoidal, for transporting

Question 29

Microangiopathic anemias

Answer 29

Disseminated intravascular coagulation, Thrombotic thrombocytopenia coagulation, Hemolytic Uremic syndrome

Question 30

increased osmotic fragility, autoimmune hemolytic anemia, burn patients

Answer 30

spherocytes

Question 31

Spectrin alpha chain mut, autosomal dominant, mild extravascular hemolysis

Answer 31

heriditary elliptocytosis/ovalocytosis

Question 32

elliptocytosis/ovalocytosis

Answer 32

Def in Fe: thin, pencil life | Vit b12 wider and larger

Question 33

reflective of amount of erythropoiesis, should be 1% daily, 2 mil

Answer 33

reticulocytes