Human Genetics – University of Illinois at Chicago – UIC

University of Illinois at Chicago College of Medicine DEPARTMENT of MOLECULAR GENETICS INTRODUCTION Organization of the Course Required and Optional Texts General Introduction MENDELIAN INHERITANCE General Background categories of genetic diseases population frequencies modes of inheritance Mitosis and Meiosis Meiosis and Gametogenesis Pedigree Construction Modes of Inheritance autosomal dominant inheritance heterozygous affected phenotype hallmarks Punnett square pedigree variable expressivity late onset high recurrent mutation rate incomplete penetrance autosomal recessive inheritance introduction hallmarks carrier probabilities in a pedigree effects of consanguinity X-linked dominant inheritance hallmarks Punnett square pedigree lethality in males X-linked recessive inheritance pedigree Punnett square hallmarks Bayesian probability new mutations in genetic lethals sex limited inheritance mitochondrial inheritance Imprinting CHROMOSOMAL INHERITANCE Importance Karyotype Chromosome Replication Autosomal Chromosomal Abnormalities meiotic nondisjunction mitotic nondisjunction Robertsonian translocation isochrome formation Sex Chromosome Abnormalities Lyon hypothesis Barr bodies Turner syndrome Klinefelter syndrome XYY and XXX syndromes Non-Meiotic Chromosome Abnormalities Inversions Ring Chromosomes Translocations (non-Robertsonian) Uniparental Disomy MULTIFACTORIAL INHERITANCE Importance Regression to the mean Polygenic Inheritance The Multifactorial Model Concordance Threshold Model of Disease Degree of Relationship and Genes in Common Two Threshold Diseases Severity of Disease and Recurrence Risk Multiple Affected Offspring and Recurrence Risk Consanguinity Hallmarks of Multifactorial Inheritance LINKAGE AND MAPPING Introduction X-linkage Autosomal Linkage POPULATION GENETICS Introduction Gene and Genotype Frequencies Codominant Alleles Hardy-Weinberg Equilibrium Assumptions Calculating frequencies Evidence that it applies to humans 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

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Human Genetics - University of Illinois at Chicago - UIC