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Von Willebrand Disease: Mutations, Von Willebrand Factor Variance and Genetic Drift

Carlsson Pecharromán, Cecilia (2017) MOBK01 20162
Degree Projects in Molecular Biology
Abstract
The most commonly inherited bleeding disorder in humans is the von Willebrand disease (VWD), which is categorized into Type 1, Type 2 (with subtypes 2A, 2B, 2M and 2N) and Type 3 (Chen et al., 2016). In order to acquire a better method for its diagnosis, first the mutations causing the different types of the disorder were recorded. Secondly, the variance in the concentration of the von Willebrand factor (VWF) in the plasma was analysed since defects in the VWF gene cause the disorder (Goodeve et al., 2007). The concentration of the VWF in the plasma was compared between seemingly healthy individuals with different gender, age and blood type. Finally, the genetic diversity within different populations was determined so as to discover if... (More)
The most commonly inherited bleeding disorder in humans is the von Willebrand disease (VWD), which is categorized into Type 1, Type 2 (with subtypes 2A, 2B, 2M and 2N) and Type 3 (Chen et al., 2016). In order to acquire a better method for its diagnosis, first the mutations causing the different types of the disorder were recorded. Secondly, the variance in the concentration of the von Willebrand factor (VWF) in the plasma was analysed since defects in the VWF gene cause the disorder (Goodeve et al., 2007). The concentration of the VWF in the plasma was compared between seemingly healthy individuals with different gender, age and blood type. Finally, the genetic diversity within different populations was determined so as to discover if there was genetic drift between the populations. (Less)
Popular Abstract
Which is the most common blood disorder? And what causes it?

Humans can’t live without blood. Without blood, the organs and tissues of our body wouldn’t get the oxygen and nutrients necessary for our survival. We wouldn’t be able to fight off infections, and we wouldn’t be able to get rid of the waste products generated inside ourselves.

The blood is made up by a liquid part, called plasma, and a solid part, including red blood cells, white blood cells and platelets. Red blood cells transport oxygen to your body’s organs and tissues. White blood cells help your body fight infections. Platelets, along with clotting factors, stop bleeding by forming clumps of blood around injured vessels. Bleeding disorders affect one or more of these... (More)
Which is the most common blood disorder? And what causes it?

Humans can’t live without blood. Without blood, the organs and tissues of our body wouldn’t get the oxygen and nutrients necessary for our survival. We wouldn’t be able to fight off infections, and we wouldn’t be able to get rid of the waste products generated inside ourselves.

The blood is made up by a liquid part, called plasma, and a solid part, including red blood cells, white blood cells and platelets. Red blood cells transport oxygen to your body’s organs and tissues. White blood cells help your body fight infections. Platelets, along with clotting factors, stop bleeding by forming clumps of blood around injured vessels. Bleeding disorders affect one or more of these parts of the blood and prevent your blood from doing its job.

One kind of bleeding disorder is the Von Willebrand Disease, which is the most common inherited bleeding disorder. The disease causes blood coagulation, the formation of blood clumps, to weaken because of the dependency of platelets on a clotting factor called Von Willebrand Factor. This means that individuals with the disease will bleed more if a blood vessel breaks than other individuals who don’t have the disease.

There are three different types of the disease: Type 1 is caused by a lower amount of the clotting factor, Type 2 is caused by a defect in the clotting factor, and Type 3 is caused by the complete absence of the clotting factor. To understand this better imagine that you have a boat and that you have to cover up a hole with wooden boards to prevent water from leaking in to your boat. Type 1 of the disease would mean that you have wooden boards of good quality but only a few and wouldn’t be able to completely cover up the hole. Whereas, Type 2 of the disease would mean that you have enough wooden boards to cover up the hole but that these wooden boards have some kind of defect, for example a crack, which allows some water to leak in. Finally, Type 3 of the disease would mean that you don’t have any wooden boards at all.

What I did in my project was finding out which mutations in the DNA, that is, which alterations within the information that constitutes ourselves, that lead to each type of the disease and observing if there were any differences between populations. I also studied if the disease depends on age, gender or blood type, by comparing the amount of Von Willebrand Factor in various individuals. I did this by using statistical methods. I have found out that the amount of clotting factor increases with age, that the amount of clotting factor is higher in women than in men, and that the amount of clotting factor is highest for people with blood type A and lowest for people with blood type O. This research is important since the information gathered by it allows us to diagnose the Von Willebrand Disease better, and therefore we are able to provide a better treatment for people affected by this disease.

Handledare: Torbjörn Säll
Examensarbete 15 hp i Molekylärbiologi 2016
Biologiska institutionen, Lunds universistet (Less)
Please use this url to cite or link to this publication:
author
Carlsson Pecharromán, Cecilia
supervisor
organization
course
MOBK01 20162
year
type
M2 - Bachelor Degree
subject
language
English
id
8902202
date added to LUP
2017-02-02 15:17:18
date last changed
2017-02-02 15:17:18
@misc{8902202,
  abstract     = {The most commonly inherited bleeding disorder in humans is the von Willebrand disease (VWD), which is categorized into Type 1, Type 2 (with subtypes 2A, 2B, 2M and 2N) and Type 3 (Chen et al., 2016). In order to acquire a better method for its diagnosis, first the mutations causing the different types of the disorder were recorded. Secondly, the variance in the concentration of the von Willebrand factor (VWF) in the plasma was analysed since defects in the VWF gene cause the disorder (Goodeve et al., 2007). The concentration of the VWF in the plasma was compared between seemingly healthy individuals with different gender, age and blood type. Finally, the genetic diversity within different populations was determined so as to discover if there was genetic drift between the populations.},
  author       = {Carlsson Pecharromán, Cecilia},
  language     = {eng},
  note         = {Student Paper},
  title        = {Von Willebrand Disease: Mutations, Von Willebrand Factor Variance and Genetic Drift},
  year         = {2017},
}