Autosomal Dominant and Recessive Inheritance
3/2/98
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Table of Contents:
Introduction
Topics of Discussion
Topics of Discussion
Principle of Segregation
Principle of Independent Assortment
Dominant or Recessive
Basic Concepts of Probability
Multiplication Rule
Addition Rule
Basic Probability - Summary
Genes and Genotype Frequencies
Hardy - Weinberg Principle
Hardy - Weinberg Principle
Hardy - Weinberg Principle
H-W - Risk Calculation
Hardy - Weinberg Principle
Concept of Phenotype
Concept of Phenotype
Basic Pedigree Structure
Autosomal Dominant Inheritance
Autosomal Dominant Inheritance
Autosomal Dominant Inheritance
Autosomal Dominant Inheritance
Autosomal Dominant Inheritance
AD Inheritance - Recurrence Risk
AD Inheritance - Common Disorders
Autosomal Recessive Inheritance
Autosomal Recessive Inheritance
AR Inheritance - Pedigree
“Dominant” versus “Recessive”:
Some cautions
Factors that may complicate Inheritance Patterns
New Mutation
New Mutation - Example
New Mutation
Germline Mosaicism
Germline Mosaicism
Germline Mosaicism - Diseases Identified
Delayed Age of Onset
Reduced Penetrance
Variable Expression
Variable Expression - Causes
Pleiotropy
Pleiotropy
Locus Heterogeneity
Genomic Imprinting
Deletion of long arm chromosome 15
Genomic Imprinting
Anticipation
Anticipation - Myotonic Dystrophy
Trinucleotide Repeat Expansions
Consanguinity
Consanguinity
Coefficient of Relationship
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