Hemophilia/ Tay Sachs 9/18

Question 1

H type of genetic mutation

Answer 1

x-linked

Question 2

H which genes mutated

Answer 2

F8, F9, F11

Question 3

H characteristic

Answer 3

decreased blood clotting

Question 4

hemostasis normal functions

Answer 4

Vascular Spasm
Platelet Plug Formation
Coagulation

Question 5

hemophilia A

Answer 5

most common/ most severe
-Insufficient amount of Factor
VIII

Question 6

hemophilia B

Answer 6

15-20%
-Insufficient amount of Factor
IX

Question 7

hemophilia C

Answer 7

least common/ men and women equally affected
-Insufficient amount of Factor Xl

Question 8

tay sachs type of genetics

Answer 8

autosomal recessive

Question 9

hexa

Answer 9

gene found on chromosome 15 that encodes for the alpha
subunit of the enzyme
β-hexosaminidase A

Question 10

β-hexosaminidase A

Answer 10

enzyme found in lysosomes
- forms part of a complex that breaks down a fatty substance called GM2
ganglioside

Question 11

GM2 Ganglioside

Answer 11

normally found in cell
membranes, particularly
in the brain and nervous
system; signal
transduction is main
function

Question 12

tay sachs causes…

Answer 12

destruction of nerve cells in the
brain and spinal cord

Question 13

process of tay sachs

Answer 13

gene mutated for enzyme beta-hexaminadase A— inhibits breakdown of GM ganglioside—- buildup in lysosome that leads to neuronal damage

Question 14

cherry red spot

Answer 14

accumulation of lipid in retinal ganglion cells