Human Genetic Conditions

• Achondroplastic Dwarfism

  • affects cartilage formation and bone growth
  • lethal in homozygous condition
  • Heterozygous
• Acromegaly

  • Form of gigantism in humans
  • Develops from overactive pituitary gland
  • leads to serious health complications
  • Extra growth hormones on organs and cartilage - tearing in cartilage and organs become too large for the body
• Huntington's Chorea

  • leads to degeneration of the nervous system
  • from abornorally large or mutation in the gene of Huntington's protein
• Albinism

  • mutation in the melanin production pathway
  • can be associated with vision problems - increase photosensitivity
  • seen in many different animals
• Phenylketonuria (PKU)

  • inability to digest the amino acid phenylalanine (common in many artificial sweeteners and food)
  • conflict with brain functioning
  • can lead to mental retardation
  • can be managed with diet regulation
• Cystic Fibrosis

  • defect in chloride ion membrane channel proteins, leads to a buildup of stick mucus
  • Many symptoms, particular in digestive, respiratory systems
  • results in death by 50 by blocking absorption in digestive system
• Sex Linked (x-linked recessive)

  • most common sex linked inheritance pattern
  • tends to show up in males due to hemizygosity
• Duchenne Muscular Dystrophy

  • due to an abnormality in the dystrophin protein
  • early onset muscle degeneration disease
• Hemophilia (Sex linked recessive)

  • defect in the proteins involved in blood clotting
  • two different form are defect in x-linked recessive conditions
• Red-Green Colorblindness

  • defect in the proteins that detect particular wavelengths of light
• Y- Linked

  • even less common then x-linked dominant because the y almost has no genes on it