General Biology 2 11

• 1866

  
  

  Gregor Mendel published results of investigations on inheritance of "factors" on pea
• Barbara McClintock awarded Nobel prize for discovery that genes can change position on chromosomes


  1983

  
• Team of scientists began project to map the human genome


  1980s
• Gene therapy used on patients for the first time


  1990
• Non-disjunction


  Chromosomes failing to separate correctly, resulting in gametes with one extra, or one missing, chromosome (aneuploidy)

  
• Mutation


  Can be either inherited from a parent or acquired, hereditary mutation is a mistake present in DNA of reproductive cells and can be passed down
• X-linked dominant

  X-linked recessive

  Y-linked

  
  

  Inherited disorders related to sex chromosomes
• Trisomy 13 (Patau Syndrome)


  Also known as Trisomy D, caused by non-disjunction of chromosome 13, disrupts normal development causing heart and kidney defects
• Trisomy 18 (Edward Syndrome)


  Also known as Trisomy E, caused by extra 18th chromosome due to meiotic nondisjunction, 2nd most common autosomal trisomy

  
• Symptoms of Edward Syndrome


  • Mental deficiency
  • Growth retardation
  • Prominent occiput with elongated head
  • Clenched fists with overlapping of fingers
  • Webbing of the neck
  • Low-set malformed ears
  • Ventricular septal defects
  • Short sternum
  • Micrognathia
  • Renal anomalies
  • Hypoplastic nails
• Wolf-Hirschhorn Syndrome


  Also known as Pitt-Rogers-Danks Syndrome or Pitt Syndrome, caused by deletion of the short arm of chromosome 4
• Symptoms of Wolf-Hirschhorn Syndrome


  • Short Philtrum
  • Immunodeficient
  • Microcephaly (Small Head Size)
  • Seizures
  • Muscle Hypotonia
  • Renal Anomalies
  • Deafness
• Symptoms of Cri du chat


  • Excessive Drooling
  • Behavioral Problems
  • Often Mental Retarded
  • Exhibits Gastrointestinal and Cardiac Complications
  • Abnormal Development of Larynx and Glottis
• Treatments for sickle cell disease


  • Folic acid (1 gm life time)
  • Penicillin (5 years)
  • Anti-malarial chemoprophylaxis (in malarial countries)
  • Opioids, NSAID
  • Oxygen supplementation for hypoxia, blood transfusion or exchange transfusion
  • Transfusion therapy: Blood transfusions
  • Bone marrow transplants
• Tests performed before birth carry risks of miscarriage or injury to fetus

  
  

  • Amniocentesis
  • Chorionic villi sampling (CVS)
  • Fetoscopy
• Ways of imaging human fetus

  • Conventional ultrasound
  • 4d ultrasound
  • Fetoscopy
• Hydrostatic skeleton


  Internal fluid-filled chamber that muscle exerts force against (e.g. earthworm)
• Parts of the vertebrate skeleton


  • Axial skeleton (vertebral column, bones of head, rib cage)
  • Appendicular skeleton (pectoral girdle, pelvic girdle, limbs or bony fins)

  
• Shape of the human backbone


  Evolutionary adaptation to upright walking