Genetics and Heredity

1. Human Genetics
   1. Genetic Disorders
      1. Autosomal Disorders
         1. Understand autosomal dominant disorders
            1. Examples include Huntington's disease and Marfan syndrome
            2. Patterns of inheritance: one mutant allele from either parent
            3. Phenotypic expression and variability
            4. Mechanisms: gain-of-function and haploinsufficiency
         2. Explore autosomal recessive disorders
            1. Common disorders such as cystic fibrosis and sickle cell anemia
            2. Inheritance pattern requires two copies of the mutant gene
            3. Carrier states and implications in populations
            4. Management and genetic testing
      2. Sex-Linked Disorders
         1. X-linked dominant disorders
            1. Conditions like Rett syndrome
            2. Unique inheritance patterns affecting males and females differently
            3. Hemizygous effects in males
            4. Tissue-specific phenotypic consequences
         2. X-linked recessive disorders
            1. Examples include hemophilia and Duchenne muscular dystrophy
            2. Male vulnerability and female carrier status
            3. Genotype-phenotype relationship exploration
         3. Y-linked disorders
            1. Male infertility as a key example
            2. Inheritance constraints: strictly paternal lineage
            3. Limited impact due to small number of Y-linked genes
      3. Chromosomal Abnormalities
         1. Numerical abnormalities
            1. Trisomy disorders: Down syndrome, Edwards syndrome, Patau syndrome
            2. Monosomy examples like Turner syndrome
            3. Mechanisms: nondisjunction and mosaicism
            4. Prenatal diagnosis and health implications
         2. Structural abnormalities
            1. Translocations: balanced and unbalanced genetics
            2. Deletions and duplications: Cri du chat syndrome
            3. Inversions and insertions
            4. Effects on gene function and expression
   2. Genetic Counseling
      1. Role and importance in diagnostically complex cases
         1. Process of genetic risk assessment
         2. Pedigree analysis and family history
         3. Evaluating multifactorial inheritance patterns
      2. Counseling for predictive and carrier testing
         1. Implications for individuals and family planning
         2. Techniques for nondirective counseling
         3. Preparation for potential emotional outcomes
      3. Support systems and resources for expectant parents
         1. Prenatal and neonatal screening programs
         2. Strategies for managing hereditary cancer risks
   3. Ethical and Social Implications
      1. Genetic Privacy
         1. Concerns around genetic data collection and sharing
         2. Prevention of misuse and impact on personal privacy
         3. Legislation and policies governing genetic information
      2. Designer Babies
         1. Technological capabilities vs. ethical considerations
         2. Pros and cons of genetic modifications in embryos
         3. Public perception and societal impact
      3. Genetic Discrimination
         1. Historical context and current examples
         2. Legal protections: understanding the Genetic Information Nondiscrimination Act (GINA)
         3. Employer and insurance-related discrimination issues
      4. Implications of direct-to-consumer genetic testing
         1. Accuracy of results and interpretations
         2. Psychological ramifications of testing
         3. Regulatory oversight and consumer protection measures