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Autosomal Dominant Inheritance

By: Jack Wernet. Autosomal Dominant Inheritance. Autosomal Dominance. “A gene on one of the non-sex chromosomes that is always expressed, even if only one copy is present.” (Human Genome Project Information at the U.S. Department of Energy) “Autosomal” “The gene in question is located

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Autosomal Dominant Inheritance

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  1. By: Jack Wernet Autosomal Dominant Inheritance

  2. Autosomal Dominance • “A gene on one of the non-sex chromosomes that is always expressed, even if only one copy is present.” (Human Genome Project Information at the U.S. Department of Energy) • “Autosomal” “The gene in question is located on one of the numbered, or non-sex, chromosomes” • “Dominance” “A single copy of the disease associated mutation is enough to cause the disease.”

  3. Chance of Dominance • Hybrid reproduction with the recessive gene results in a 50% chance for disease in the offspring.

  4. A full list of genotypes and phenotypes • Keeps track of genetic diseases

  5. Brachydactyly • OMIM– 112500 • Autosomal Dominant • Discovered in 1903 by William Curtis Farabee • This was the 1st record of this disease. • In 1951 it was classified as type A1 Brachydactyly • Treatment for this disease is not needed

  6. Effects • Born with the disease • Short Fingers and Toes • Normal lives • There are many different forms of Brachydactyly.

  7. Huntington Disease (HD) • OMIM – 143100 • The gene was discovered in 1933 by many researchers. • Usually appears around the ages 40-50 (live about 15 yrs after signs) • Excess CAG triplet mutation in HTT Protein • Loss of Neurons • Nothing to cure or stop this disease • Goal of any treatment is to slow the process of the destruction of these neurons “Symptoms include: poor memory, depression and/or mood swings, lack of coordination, twitching or other uncontrolled movements, and difficulty walking, speaking, and/or swallowing. In the late stages of the disease, a person will need help doing even simple tasks, such as getting dressed.” (The University of Utah)

  8. Huntingtin (HTT) Protein • In all cells of the body • Selectively kills nerve cells • HD patients affect a group of nerve cells at the base of the brain called basal ganglia. • It controls the muscle driven movements of the body. • HD Basal Ganglia is smaller, affecting these movements

  9. Neurofibromatosis (NF) • OMIM – 162200 • Can be passed down to children • Can also occur by a genetic mutation • Affects how nerve cells form and grow. • Forms small benign tumors – neurofibromas • No cure yet, but tumor can be surgically removed. • Also symptoms can be treated. • 2 major types: • NF1 • NF2

  10. NF1 • “Causes skin changes and deformed bones and usually starts at birth.” (Medline Plus) • This type is present at birth

  11. NF2 • “Causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years.” (Medline Plus) • Usually begins in a teenager.

  12. Marfan Syndrome • OMIM – 154700 • First described and named after Antoine Marfan in 1896 • Causes defects in the protein Fibrillin • No cure yet, but all symptoms can be treated.

  13. Fibrillin • A protein that is a part of the connective tissue in the body. • A defect in Fibrillin causes a defect in the connective tissue. • Causes extremely long arms, fingers, a very tall body structure, and loose joints. Symptoms include: spider like fingers, flat feet, learning disabilities, flexible joints, small lower jaw, and a chest that sinks in or out.

  14. Alzheimer Disease • 1% of all cases of Alzheimer is inherited • Usually occurs over the age of 65 • Caused by a mutation in the APP gene • There is no cure or treatment to slow down the process of Alzheimer • Symptoms can be treated This disease can result in frequent memory loss, mood swings, loss of confidence and difficulty performing everyday activities.

  15. APP Gene • Creates amyloid precursor proteins • Mutation in the gene results in a mutation in the protein. • This creates an excess amount of amyloid β peptide which causes Alzheimer disease.

  16. Quiz pt. 1 Huntington disease usually appears around age: a. at birth b. 10-20 c. 40-50 d. 65

  17. Quiz pt. 1 Huntington disease usually appears around age: a. at birth b. 10-20 c. 40-50 d. 65

  18. Quiz pt. 2 A mutation in the APP gene causes what disease? a. Alzheimer Disease b. Huntington Disease c. Neurofibromatosis d. Brachydactyly

  19. Quiz pt. 2 A mutation in the APP gene causes what disease? a. Alzheimer Disease b. Huntington Disease c. Neurofibromatosis d. Brachydactyly

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