What genetic aspect is involved in von Willebrand disease?

Prepare for the COMAT Foundational Biomedical Science Exam with comprehensive questions. Study with flashcards and detailed explanations to boost your exam readiness and understanding.

Von Willebrand disease is primarily associated with mutations in the gene encoding von Willebrand factor (VWF), which is located on the short arm of chromosome 12. This factor is crucial for blood clotting, as it aids in platelet adhesion and is also involved in stabilizing factor VIII, another key component of the coagulation cascade.

Mutations that affect the function or quantity of von Willebrand factor lead to the symptoms characteristic of the disease, such as increased bleeding tendency. These mutations can result in various types of von Willebrand disease, influencing the severity of the clinical manifestations. The specific involvement of the short arm of chromosome 12 is critical to understanding the genetic basis of the disorder, making this the correct answer.

In contrast, options that mention other chromosomes or types of genetic alterations do not align with the known genetics of von Willebrand disease and therefore are not relevant to this condition.

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