Inheritance & diseases

• Topics


  • Inheritance and disease genes
  • Genetic mapping and finding mutations
  • From genotype to phenotype
• Fundamentals of Genetic Counselling

  1. Drawing a pedigree

  2. Risk estimation by Bayesian statistics

  3. Risk estimation by Hardy-Weinberg equilibrium
• Mendel's principles


  Principles of inheritance discovered by Gregor Mendel
• Mendel's principles are illustrated in the provided images
• Genetic diseases


  • Single-gene diseases
  • Rare diseases (less than 1/2,000 people affected, more than 80% have genetic basis)
  • Congenital diseases (about 5% of live born babies have a significant medical disorder)
• Mode of inheritance


  • Autosomal dominant
  • Autosomal recessive
  • X-linked recessive
  • X-linked dominant
• Pedigree symbols


  Symbols used to represent different individuals and relationships in a pedigree
• Genetic counselling


  The process of providing information and support to people who have or may be at risk of a genetic disorder
• Molecular diagnostics


  The use of molecular biology techniques to diagnose genetic disorders
• Risk estimation by Bayesian statistics


  Example of genetic counselling using Bayesian statistics
• Bayesian statistics


  A statistical method for calculating the probability of an event occurring based on prior knowledge or information
• Conditional probability


  The probability of an event occurring given that another event has occurred
• Disease frequency


  The proportion of a population affected by a particular genetic disease
• Population frequencies


  The frequencies of different genotypes in a population
• Recurrence risk


  The probability that a genetic disorder will occur again in a family
• Assumptions behind Hardy-Weinberg equilibrium

  • Large population size
  • Random mating
  • No mutation
  • No migration