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Human Genetic Disorders and Pedigrees

Human Genetic Disorders and Pedigrees . Christopherson. 46 TOTAL 23 homologous pairs. Human Genetics: Karyotypes. 46 TOTAL 23 homologous pairs. Sex Chromosomes. 2 sex chromosomes Typical Female = XX Typical Male = XY. Autosomes. Autosomes: Any chromosome that’s not a sex chromosome

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Human Genetic Disorders and Pedigrees

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  1. Human Genetic Disorders and Pedigrees Christopherson

  2. 46 TOTAL 23 homologous pairs Human Genetics: Karyotypes 46 TOTAL 23 homologous pairs

  3. Sex Chromosomes • 2 sex chromosomes • Typical Female = XX • Typical Male = XY

  4. Autosomes • Autosomes:Any chromosome that’s not a sex chromosome • 44 Autosomes • 22 pairs of Autosomes

  5. Recessive Disorder Caused by 2 recessive alleles

  6. Albinism Defect of melanin production that results in little or no color in the skin, hair, and eyes

  7. Albinism

  8. Albinism

  9. How does it happen?Affected Genotype: aa

  10. Cystic Fibrosis • Disease that causes the body to produce unusually thick, sticky mucus that: • Clogs the lungs and leads to lung infections • Obstructs the pancreas • Stops natural enzymes from helping the body break down and absorb food

  11. How does it happen?Affected Genotype: cc

  12. Sickle Cell Anemia Caused by an abnormal hemoglobin shape which causes the red blood cells to have a crescent shape. Red blood cells carry oxygen.

  13. How does it happen?Affected Genotype: ss

  14. Caused by a dominant allele Affected individuals are homozygous dominant or heterozygous Dominant Disorder

  15. Huntington’s Disease Causes the break down of brain cells, (neurons) in certain areas of the brain. Causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance.

  16. How does it happen?Affected Genotype: HH or Hh

  17. Linked to sex chromosomes Recessive Disorders – caused by recessive alleles Sex-Linked Disorder

  18. Color Blindness Inability to see colors in the normal way

  19. How does it happen?Affected Genotypes:XbXbXbY

  20. Hemophilia Inability of the blood to clot properly

  21. How does it happen?Affected Genotypes:XhXhXhY

  22. What is a Pedigree??? Diagram showing a family tree and patterns of inheritance.

  23. Types of Pedigrees: Recessive Affected Genotypes: bb Unaffected Genotypes: BB or Bb HINT: Recessive Disorders skip generations

  24. Is the Pedigree below showing Recessive Inheritance?

  25. Recessive Inheritance?

  26. Recessive Inheritance?

  27. Types of Pedigrees: Sex-linked Affected Genotypes: XbXb or XbY Unaffected Genotypes: XBXB or XBXb and XBY HINT: Mainly males are affected

  28. Is the Pedigree below showing Sex-Linked Inheritance?

  29. Sex-linked Inheritance?

  30. Sex-linked Inheritance?

  31. Types of Pedigrees: Dominant Affected Genotypes: BB or Bb Unaffected Genotypes: bb

  32. Is the Pedigree below showing Dominant Inheritance?

  33. Dominant Inheritance?

  34. Dominant Inheritance?

  35. How many generations? What is genotype of Individual I-1? What type of Inheritance?

  36. How many generations? What is genotype of Individual I-1? What type of Inheritance?

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