INTRODUCTION

1. Organization of the Course
2. Required and Optional Texts
3. General Introduction

MENDELIAN INHERITANCE

1. General Background
   • categories of genetic diseases
   • population frequencies
   • modes of inheritance
2. Mitosis and Meiosis
3. Meiosis and Gametogenesis
4. Pedigree Construction
5. Modes of Inheritance
   1. autosomal dominant inheritance
      • heterozygous affected phenotype
      • hallmarks
      • Punnett square
      • pedigree
      • variable expressivity
      • late onset
      • high recurrent mutation rate
      • incomplete penetrance
   2. autosomal recessive inheritance
      • introduction
      • hallmarks
      • carrier probabilities in a pedigree
      • effects of consanguinity
   3. X-linked dominant inheritance
      • hallmarks
      • Punnett square
      • pedigree
      • lethality in males
   4. X-linked recessive inheritance
      • pedigree
      • Punnett square
      • hallmarks
      • Bayesian probability
      • new mutations in genetic lethals
   5. sex limited inheritance
   6. mitochondrial inheritance
6. Imprinting

CHROMOSOMAL INHERITANCE

1. Importance
2. Karyotype
3. Chromosome Replication
4. Autosomal Chromosomal Abnormalities
   1. meiotic nondisjunction
   2. mitotic nondisjunction
   3. Robertsonian translocation
   4. isochrome formation
5. Sex Chromosome Abnormalities
   1. Lyon hypothesis
   2. Barr bodies
   3. Turner syndrome
   4. Klinefelter syndrome
   5. XYY and XXX syndromes
6. Non-Meiotic Chromosome Abnormalities
   1. Inversions
   2. Ring Chromosomes
   3. Translocations (non-Robertsonian)
   4. Uniparental Disomy

MULTIFACTORIAL INHERITANCE

1. Importance
2. Regression to the mean
3. Polygenic Inheritance
4. The Multifactorial Model
5. Concordance
6. Threshold Model of Disease
7. Degree of Relationship and Genes in Common
8. Two Threshold Diseases
9. Severity of Disease and Recurrence Risk
10. Multiple Affected Offspring and Recurrence Risk
11. Consanguinity
12. Hallmarks of Multifactorial Inheritance

LINKAGE AND MAPPING

1. Introduction
2. X-linkage
3. Autosomal Linkage

POPULATION GENETICS

1. Introduction
2. Gene and Genotype Frequencies
   1. Codominant Alleles
   2. Hardy-Weinberg Equilibrium
      • Assumptions
      • Calculating frequencies
      • Evidence that it applies to humans
   3. Exceptions to Hardy-Weinberg Assumptions
      • Effect of recurrent mutation
      • Effect of selection against the recessive phenotype
      • Balance between selection and recurrent mutation
      • Balanced polymorphism
      • Non-random mating
      • Small populations
      • X-linked loci

uizzes on the five major topics listed above are available on-line at our secure Mallard site. Click here and the UIC WWW Identification Service will ask for your netid and then your password (these are the same as those you use for email.)

Once the Mallard page loads you can access the quizzes by clicking on the Lessons Page link (also the third icon from the top of the navigation bar) or the Current Lesson link (also the fourth icon from the top of the navigation bar).

Contact Dr. Robert Tissot with questions about the content of these pages.

Contact Dr. Elliot Kaufman, Course Director with questions about the functionality of these pages.

Go to Department of Molecular Genetics homepage.