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Genetically Inherited Disorders

Genetically Inherited Disorders. What are genetically inherited disorders? What is cystic fibrosis? What is sickle cell anaemia?. Inherited Disorders. What causes diseases such as measles and flu? Microorganisms (bacteria & viruses) What causes cancer?

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Genetically Inherited Disorders

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  1. Genetically Inherited Disorders What are genetically inherited disorders? What is cystic fibrosis? What is sickle cell anaemia?

  2. Inherited Disorders • What causes diseases such as measles and flu? • Microorganisms (bacteria & viruses) • What causes cancer? • When something goes wrong in our cells

  3. Inherited Disorders • Are: • Passed down from parents to their children • Conditions like sickle cell anaemia and cystic fibrosis • Genetic screening can be done on a fetus to test for inherited disorders

  4. Cystic Fibrosis

  5. Cystic Fibrosis: Symptoms • Thick sticky mucus on lungs = blocked air passages • Prone to infection • Mucus in pancreas affects digestion of food

  6. Cystic Fibrosis: Treatment • There are currently no treatments available.

  7. Genetic Cross • Cystic fibrosis is a recessive allele (c) • Can be a carrier (Cc), without any symptoms • Work out the probability of two carriers having a child with cystic fibrosis.

  8. Sickle Cell Anaemia • Caused by a recessive allele (s) • Causes red blood cells to change shape – can be trapped in blood vessels & anaemia

  9. Polydactyly

  10. Haemophilia • A genetic disorder that only affects males • It is carried on the X chromosome • Females can be a carrier if they have one ‘normal’ X and one haemophilia X • Fertilised cells with two haemophilia X chromosomes will not develop into a baby?

  11. Haemophilia: Symptoms • Blood doesn’t clot properly • Small knocks can cause internal bleeding Haemophilia: Treatment • Injections of a clotting factor

  12. Down’s Syndromeor Trisomy 21

  13. XXY • Males with some development of breast tissue normally seen in females. • Little body hair is present, and such person are typically tall, have small testes. • Infertility results from absent sperm. • Evidence of mental retardationmay or may not be present.

  14. Huntington’s Disease • Huntington's disease (HD) is an inherited, degenerative brain disorder which results in an eventual loss of both mental and physical control. The disease is also known as Huntington's chorea. Chorea means "dance-like movements" and refers to the uncontrolled motions often associated with the disease.

  15. Color Blindness • Cause: x-linked recessive • 1/10 males have, 1/100 females have. Why the difference? • Individuals are unable to distinguish shades of red-green. • Are you color blind?

  16. Current Research • Gene therapy – replace faulty genes • Stem cells – can grow into any human cells – use these to replace faulty tissues?

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