The Genetic Code

• Chromosome structure
• Karyotypes
• Amino acids, protein structure and function
• Nucleotides, DNA structure and genes
• Cell division: mitosis, meiosis
• Non-disjunction in meiosis
• DNA replication
• Genome
• Gene expression
• Protein synthesis, transcription, translation
• DNA sequencing
• The genetic code
• Polymerase chain reaction (PCR)

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PMGI01

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Mutations

• Causes, rates and location of mutations
• Gene mutations: missense, nonsense, partial and total reading frame shifts
• Sickle cell disease, cystic fibrosis, B-thalassemia, Huntington disease
• Block mutations: deletion, translocation, inversion, duplication
• Non-disjunction and aneuploidy
• Autosomal aneuploidies: Down, Edward and Patau syndromes, maternal age effect
• Aneuploidy in human sex chromosomes: Klinefelter and Turner syndromes
• Barr bodies
• Polyploidy: autopolyploidy, allopolyploidy

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PMGI02

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Nature of Genes

• Concept of the gene
• Enzymes: structure, factors affecting activity, regulation of activity
• Anabolism, catabolism
• Regulation and control of metabolism
• Metabolic pathways
• PKU, metabolism of phenylalanine
• Inherited metabolic disorders
• Operon theory: gene induction, gene repression
• Control of gene expression& metabolism in eukaryotes

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Inheritance

• Asexual and sexual reproduction
• Genes and alleles
• Mendelian inheritance: dominance, recessiveness, segregation
• Independent assortment and linkage
• Human hereditary
• Epigenetics
• Genetic crosses: monohybrid, dihybrid, test cross, back cross, ‘selfing’
• Crossing over, linked genes, recombination
• Allele expression: lethal alleles, incomplete dominance and codominance
• Multiple alleles, human blood groups
• Sex linkage, pedigree analysis
• Genetic counseling, inherited disorders
• Sex determination in animals

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PMGI04

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Gene Interactions

• Genotype and phenotype
• The nature of gene interactions
• Pleiotropy
• Polygeny
• Epistasis
• Complementary genes
• Collaboration
• Duplicate genes
• Inhibitor genes
• Environmental effects on phenotype

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PMGI05

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