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Some Genetic Disorders

Some Genetic Disorders. Genetic Disorders. All of the disorders in this presentation are autosomal . This means they NOT located on the sex chromosomes, but on the other chromosomes. Dominant (big letters) disorders show up with just one allele present from one parent.

justina-mccarthy
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Some Genetic Disorders

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  1. Some Genetic Disorders

  2. Genetic Disorders • All of the disorders in this presentation are autosomal. This means they NOT located on the sex chromosomes, but on the other chromosomes. • Dominant (big letters) disorders show up with just one allele present from one parent. • Recessive (little letters) disorders only show up when two alleles are present. Parents don’t have to have it for a child to have it.

  3. Huntington’s Disease • Dominant disorder • Symptoms: • Breakdown of brain and nerve tissue • Irritability • Loss of coordination and balance • Trouble speaking and swallowing • Death

  4. Huntington’s Disease Other Important Info.: • Rare, but lethal • Symptoms show up between ages 30 – 50 • Affected individuals may have already had children and passed it on to them before they knew they had HD. • Very similar to Parkinson’s Disease.

  5. Huntington’s Disease Practice Problem: A man who is homozygous for HD and a woman that does not have HD have a child. What is the chance that the child will have HD? Answer: ______ % chance

  6. Achondroplasia (Dwarfism) • Dominant disorder • Symptoms: • Short arms, short legs, but normal sized skull and torso (Disproportionate dwarfism) • Other Important Info.: • Inhibits bone growth- cartilage is slow to turn to bone • Have normal intellectual capacity

  7. Achondroplasia (Dwarfism) “Big World Little People” Family

  8. Achondroplasia (Dwarfism) Practice Problem: What is the chance of 2 dwards that are heterozygous for the disease to have a normal-sized child? Answer: _____% chance

  9. Cystic Fibrosis • Recessive disorder • Symptoms: • Overproduction of/and buildup of mucus in lungs and digestive tract • Salty skin (very salty sweat) • Difficulty breathing • Chronic coughing and wheezing • Inflammation of lungs

  10. Cystic Fibrosis • Other Important Info.: • Life expectancy: 30 yrs • Most common genetic disease in Caucasians • Treatments: physical therapy and gene therapy

  11. Cystic Fibrosis • Practice Problem: A child’s mom is completely normal. His dad is a carrier for CF. What is the chance that the child will also be a carrier? Answer: _____% chance

  12. Tay-Sachs Disease • Recessive disorder • Symptoms: • Lipids buildup in central nervous system • Loss of motor skills • Blindness • Paralysis • Death

  13. Tay-Sachs Disease Other Important Info: • Life expectancy 5 yrs • Most common in Jewish and Amish people

  14. Tay-Sachs Disease Practice Problem: Two carriers for Tay-Sachs have a child. What is the chance that the child will have Tay-Sachs? Answer: _____% chance

  15. Phenylketonuria (PKU) • Recessive disorder • Symptoms: • Phenlyalanine (an amino acid) builds up in body • Damages central nervous system • Causes mental retardation, seizures, tremors, social/behavior problems • Stunted growth • Hyperactivity • Vomiting and bad breath

  16. Phenylketonuria (PKU) • Other Important Info.: • Treatment: • Babies receive a special non-milk formula • Affected individuals should eat a special diet, limited in protein-rich foods and avoid artificial sweetners.

  17. Phenylketonuria (PKU) Practice Problem: A woman has PKU. A man is completely normal. What is the chance of their child having PKU? Answer: _____% chance

  18. Albinism • Recessive disorder • Symptoms: • Causes no or little pigment (melanin) in eyes, skin, and hair • Blue eyes • Pale skin • Light hair

  19. Albinism • Other Important Info.: • Sensitive to sun exposure • Vision is impaired

  20. Albinism Practice Problem: Is it possible for 2 albino people to have a child with normal pigment? Answer: ______% chance

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