Questions and Answers
Which of the following is an example of an autosomal dominant disease with high penetrance?
What is the condition characterized by brittle bones?
Which of the following conditions is associated with autosomal recessive inheritance?
Which autosomal dominant trait is known to cause tumors and skin changes?
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What does variable expressivity refer to?
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Which of the following is NOT an example of an autosomal dominant trait?
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Which condition is primarily characterized by high cholesterol levels due to autosomal dominant inheritance?
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Which of these conditions leads to short-limbed dwarfism?
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Which autosomal recessive disorder affects hemoglobin and leads to sickle-shaped red blood cells?
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Study Notes
Autosomal Dominant Traits
- Huntington's disease (HD): A neurodegenerative disorder leading to cognitive decline and movement issues.
- Achondroplasia: A genetic condition resulting in disproportionate dwarfism characterized by short limbs and a normal-sized torso.
- Marfan syndrome: A disorder affecting connective tissues, often resulting in tall stature and cardiovascular complications.
- Neurofibromatosis type 1 (NF1): A condition causing the growth of benign tumors on nerves and skin, along with café-au-lait spots.
- Familial hypercholesterolemia (FH): A genetic disorder leading to dangerously high cholesterol levels, increasing the risk of cardiovascular diseases.
Autosomal Dominant Diseases with High Penetrance
- Li-Fraumeni syndrome (LFS): A hereditary syndrome that significantly increases the risk of several types of cancer, particularly in children and young adults.
- Multiple endocrine neoplasia type 2 (MEN2): A genetic disorder causing various tumors, especially in the thyroid, and the risk of medullary thyroid carcinoma.
- Von Hippel-Lindau disease (VHL): A hereditary condition characterized by the development of tumors and cysts in multiple organs, including the kidneys and pancreas.
Autosomal Dominant Traits with Variable Expressivity
- Familial adenomatous polyposis (FAP): A genetic disorder marked by the presence of numerous polyps in the colon, with a high risk of progression to colon cancer.
- Hereditary spherocytosis (HS): A blood disorder that leads to spherical-shaped red blood cells, causing hemolytic anemia and splenomegaly.
- Osteogenesis imperfecta (OI): A connective tissue disorder leading to fragile bones and susceptibility to fractures, varying in severity from mild to severe.
Autosomal Recessive Traits
- Cystic fibrosis (CF): A genetic disorder affecting the respiratory and digestive systems due to thick mucus production, leading to respiratory infections and malnutrition.
- Sickle cell anemia (SCA): A hereditary blood disorder where the red blood cells become rigid and shaped like a sickle, causing pain and complications due to reduced blood flow.
- Tay-Sachs disease: A rare neurodegenerative disorder caused by enzyme deficiency, leading to the buildup of GM2 gangliosides in the brain, resulting in severe neurological impairment.
- Thalassemia: A genetic blood disorder impacting hemoglobin production, which leads to anemia and requires regular blood transfusions in severe cases.
Additional Notes
- Penetrance measures how often a specific genotype results in the phenotypic expression.
- Expressivity indicates the range of severity or manifestations of a trait.
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Description
Test your knowledge on various autosomal dominant traits and diseases, including conditions such as Huntington's disease, achondroplasia, and Marfan syndrome. This quiz will explore their characteristics, penetrance, and implications for individuals affected by these genetic conditions.
