Podcast
Questions and Answers
A patient with familial goiter can be treated with the missing hormone ______.
A patient with familial goiter can be treated with the missing hormone ______.
L-thyroxine
Krabbe's disease is due to the lack of the enzyme ______.
Krabbe's disease is due to the lack of the enzyme ______.
Beta-galactosidase
An example of an autosomal recessive disorder is ______.
An example of an autosomal recessive disorder is ______.
Cystic fibrosis
Cancerous cells exhibit characteristics such as uncontrolled growth and invasion of ______ tissues.
Cancerous cells exhibit characteristics such as uncontrolled growth and invasion of ______ tissues.
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A genetic marker for ______ disease has been found on chromosome 21.
A genetic marker for ______ disease has been found on chromosome 21.
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Wilson's disease is caused by the body's failure to eliminate ______ ions due to lack of enzyme ceruloplasmin.
Wilson's disease is caused by the body's failure to eliminate ______ ions due to lack of enzyme ceruloplasmin.
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Albinism is caused by the lack of enzyme ______, which is necessary for the formation of melanin.
Albinism is caused by the lack of enzyme ______, which is necessary for the formation of melanin.
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Hemophilia is caused by a missing protein called an ______, which is important for normal blood clotting.
Hemophilia is caused by a missing protein called an ______, which is important for normal blood clotting.
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Muscular dystrophy primarily affects ______ and causes progressive weakness and wasting of muscles.
Muscular dystrophy primarily affects ______ and causes progressive weakness and wasting of muscles.
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Niemann-Pick Disease is caused by a lack of enzyme ______, which leads to the accumulation of sphingomyelin.
Niemann-Pick Disease is caused by a lack of enzyme ______, which leads to the accumulation of sphingomyelin.
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Tay Sach's disease is due to a lack of enzyme ______ leading to the accumulation of glycolipid in the brain.
Tay Sach's disease is due to a lack of enzyme ______ leading to the accumulation of glycolipid in the brain.
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Sickle cell anemia is an inherited blood disorder where red blood cells become ______ shaped.
Sickle cell anemia is an inherited blood disorder where red blood cells become ______ shaped.
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Phenylketonuria results when the enzyme ______ is absent, leading to the accumulation of phenylalanine.
Phenylketonuria results when the enzyme ______ is absent, leading to the accumulation of phenylalanine.
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Study Notes
Genetic Diseases
- Genetic diseases are caused by defective genes leading to the loss of enzyme activity.
- Wilson's disease results from the body's inability to eliminate copper ions due to a lack of ceruloplasmin.
- Albinism occurs due to the absence of tyrosinase, the enzyme required for melanin production.
- Hemophilia is caused by a missing protein, antihemophilic globulin, crucial for blood clotting.
- Muscular dystrophy is characterized by a lack of dystrophin, a protein, leading to muscle weakness and wasting, primarily affecting boys.
- Niemann-Pick disease is caused by a deficiency in sphingomyelinase, leading to the accumulation of sphingomyelin in various organs, affecting brain function and causing mental retardation.
- Gaucher's disease results from a lack of glucocerebrosidase, causing an accumulation of glycolipid in the liver and spleen.
- Tay-Sachs disease is characterized by the absence of hexosaminidase A, leading to glycolipid buildup in the brain and eyes, causing muscular weakness and retinal abnormalities.
- Lou Gehrig's disease (ALS) involves the degeneration of motor neurons in the brain and spinal cord.
- Sickle cell anemia is an inherited condition where red blood cells become sickle-shaped, leading to frequent infections, swelling, fatigue, and delayed growth.
- Phenylketonuria (PKU) is caused by a lack of the enzyme phenylalanine hydroxylase, preventing the conversion of phenylalanine to tyrosine. This leads to phenylalanine accumulation, damaging the nervous system.
- Galactosemia results from a deficiency in uridyl transferase, an enzyme crucial for converting galactose to glucose, causing galactose buildup in the blood.
- Farber's disease due to a deficiency in ceramidase, characterized by hoarseness, skin problems, skeletal degeneration, and mental retardation.
- Krabbe's disease is caused by a lack of beta-galactosidase, leading to mental retardation and a lack of myelin.
Classification of Genetic Diseases
- Chromosomal disorders involve abnormalities in chromosomes, such as excess, loss, deletion, or translocation. Examples include Down's syndrome and chronic myelogenous leukemia.
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Monogenic disorders are caused by a single mutated gene.
- Autosomal dominant: Huntington's disease is an example.
- Autosomal recessive: Cystic fibrosis is an example.
- X-linked: Hemophilia is an example.
- Multifactorial disorders involve multiple genes. Essential hypertension is an example.
Treatment of Genetic Diseases
- Supplying the missing product: For example, L-thyroxine is used to treat familial goiter.
- Replacing missing enzymes or hormones: Beta-glucosidase injections for Gaucher's disease and factor VIII injections for hemophilia are examples.
- Removing excess stored substances: Vitamin B12 is used to treat methylmalonic aciduria.
- Correcting the major genetic abnormality: Liver transplantation is used for galactosemia, primarily in advanced cases.
Genetic Markers
- Areas on chromosomes believed to be linked to certain diseases.
- A marker for Alzheimer’s disease has been located on chromosome 21.
Oncogenes
- Genes responsible for triggering uncontrollable growth, leading to cancer.
Cancerous Cells: Key Characteristics
- Uncontrolled growth: Rapid, abnormal cell division.
- Invasion of body tissues: Cells invade surrounding tissues.
- Spread to other body parts: Cancer cells metastasize to other locations.
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Description
Explore the various genetic diseases characterized by defective genes and enzyme deficiencies. This quiz covers conditions such as Wilson's disease, albinism, hemophilia, and more, focusing on their causes and effects on the body. Test your knowledge on the impact of these diseases on health and development.
