Human Genetics

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Human Genetics
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Diseases Caused by Nondisjunction

• Definition
• Sample Problems
• Down Syndrome
• Trisomy 21
• Klinefelter Syndrome
• Turner Syndrome
• Supermale Syndrome
• Miscarriages

• Gene Mapping
• Genetic Markers
• Restriction fragment length polymorphisms
  (RFLPs)
  

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Autosomal Recessive Diseases

• Inheritance Patterns
• Sample Pedigrees
• Sample Punnett Squares
• Cystic fibrosis
• PKU
• Sickle Cell Anemia
• Tay Sachs
• Xeroderma Pigmentosum

• SCIDs
• Familial hypercholesterolemia

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Autosomal Dominant Traits

• Inheritance Patterns
• Sample Pedigrees
• Sample Punnett Squares
• Examples
• Huntingtons Disease
• Polydactyly

• Why are most of these dominant disorders so
  uncommon?
  

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X-linked Recessive Traits

• Inheritance Patterns
• Sample Pedigrees
• Sample Punnett Squares
• Examples
• Duchenne Muscular Dystrophy
• Hemophilia
• Red-green colorblindness
• Lesch-Nyhan Syndrome

• X-linked Dominant
• Sample Pedigrees
• Sample Punnett Squares
• Examples
• Hypertrichosis
• Y-linked traits
• Ear hair

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Summary

• Sex influenced traits
• Sample Punnett Squares
• Example baldness
• Complex Diseases
• Genetic Screenings
• Genetic Counselors
• Amniocentesis

• Chorionic Villi Sampling
• Karyotyping
• Ethical Considerations

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