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Diana’s Death Unraveled
Hemophilia causes a lack of blood clotting, but Diana died from overactive blood clotting. Factor
V Leiden is the most common hereditary hypercoagulability disorder amongst Eurasians. About
5% of Caucasians in North America are affected, and it is inherited as an autosomal dominant
mutation that causes high levels of clotting Factor V. It can cause deep vein thrombosis (blood
clot in the vein), pain, life-threatening strokes, and heart attacks.
1. Based on the types of mutations we’ve discussed so far in class, which does Factor V Leiden
fall into? (1pt)
2. Kevin Keller’s aunt’s husband and his girl cousin have died of heart attacks, but his mother,
sister, and brother are fine. Lisa Keller’s uncle is fine, but her aunt had multiple miscarriages
before she died. Her mother suffered from deep vein thrombosis, and her grandfather died of a
heart attack. Recall that Lisa has a brother with hemophilia C and an unaffected sister. Create a
pedigree diagramming these relationships. (3 pts)
b. Who do you think is more likely to carry the Factor V Leiden mutation? (1 pt)
a. Kevin Keller
b. Lisa Keller
c. Both
c. What do you think happened with the Morrison’s and Keller’s when Olivia and Diana were
young? (2 pt)
3. There is enough research evidence to support phenotypic changes in hemophiliacs with Factor
V Leiden mutations. Based on what we’ve discussed in chapter 4, what are some suggestions as
to why this might happen? Be sure to describe the normal symptoms of hemophilia and how
protein levels are affected to support your answer. (3pts)
Solution
1. Missense substitution mutation leads to Factor V Leiden . The gene which codes to the factor
is F5. A mutation of this gene where Guanine is substituted by Adenine which results in the
changing of amino acid Arginine to Glutamine.
I am not sure of the answers for the remaining questions. Please post those questions again for
other experts to answer. Thank you.

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Diana’s Death UnraveledHemophilia causes a lack of blood clotting,.pdf

  • 1. Diana’s Death Unraveled Hemophilia causes a lack of blood clotting, but Diana died from overactive blood clotting. Factor V Leiden is the most common hereditary hypercoagulability disorder amongst Eurasians. About 5% of Caucasians in North America are affected, and it is inherited as an autosomal dominant mutation that causes high levels of clotting Factor V. It can cause deep vein thrombosis (blood clot in the vein), pain, life-threatening strokes, and heart attacks. 1. Based on the types of mutations we’ve discussed so far in class, which does Factor V Leiden fall into? (1pt) 2. Kevin Keller’s aunt’s husband and his girl cousin have died of heart attacks, but his mother, sister, and brother are fine. Lisa Keller’s uncle is fine, but her aunt had multiple miscarriages before she died. Her mother suffered from deep vein thrombosis, and her grandfather died of a heart attack. Recall that Lisa has a brother with hemophilia C and an unaffected sister. Create a pedigree diagramming these relationships. (3 pts) b. Who do you think is more likely to carry the Factor V Leiden mutation? (1 pt) a. Kevin Keller b. Lisa Keller c. Both c. What do you think happened with the Morrison’s and Keller’s when Olivia and Diana were young? (2 pt) 3. There is enough research evidence to support phenotypic changes in hemophiliacs with Factor V Leiden mutations. Based on what we’ve discussed in chapter 4, what are some suggestions as to why this might happen? Be sure to describe the normal symptoms of hemophilia and how protein levels are affected to support your answer. (3pts) Solution 1. Missense substitution mutation leads to Factor V Leiden . The gene which codes to the factor is F5. A mutation of this gene where Guanine is substituted by Adenine which results in the changing of amino acid Arginine to Glutamine. I am not sure of the answers for the remaining questions. Please post those questions again for other experts to answer. Thank you.