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Mutations & Diseases

Mutations & Diseases. LETHAL! Results from non-disjunction Chromosomes do not separate properly Miscarriage. Nondisjunction: Missing 1 chromosome. SURVIVABLE! Results from non-disjunction (improper separation of chromosomes during meiosis) 3 copies of chromosome #21  trisomy

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Mutations & Diseases

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  1. Mutations & Diseases

  2. LETHAL! Results from non-disjunction Chromosomes do not separate properly Miscarriage Nondisjunction: Missing 1 chromosome

  3. SURVIVABLE! Results from non-disjunction (improper separation of chromosomes during meiosis) 3 copies of chromosome #21  trisomy Results in Down Syndrome Nondisjunction: More than 2 copies of chromosome Karyotype Non-disjunction

  4. Turner Syndrome Missing an X chromosome Born with a webbed neck Sterile Klinefelter’s Syndrome Extra X chromosome Reduced fertility Non-disjunction: Turner Syndrome & Klinefelter’s Syndrome

  5. Other Mutations Original: ABCDEF-GHI

  6. Genetic Counseling • Genetic counselors help people as they consider if they should be tested, when they receive results, and in the months after diagnosis • Help the family cope with a positive result • Arrange prevention and screening measures where they deem it appropriate

  7. Pre-natal Testing for Genetic Disorders: Cont’d • Karyotyping • Lay out chromosomes • Check for correct # • Determine the sex of the baby

  8. Ultrasound Examine anatomical features of the fetus Amniocentesis Needle into amniotic fluid 14-16 weeks Biochemical analysis Enzymes & waste products Pre-natal Testing for Genetic Disorders: Cont’d

  9. Pre-natal Testing for Genetic Disorders: Cont’d • CVS (chorion villus sample) • Examine chromosomes within the chorion

  10. Offspring have similar genetics to parents Family history- list of diseases of previous family members 8-10 weeks Pedigree- genetic chart based on family history Pre-natal Testing for Genetic Disorders

  11. Each row of shapes represents a generation Oldest generation toward top Square=male Circle= female Vertical line & bracket connect parents to their children Horizontal line indicates marriage Unshaded indicates trait is not expressed (aa) Shaded indicates trait is expressed (could be AA or Aa)

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