Genetics and Molecular Medicine

Genetics and Molecular Medicine
  • Nucleic acid and chromosome
    • Structure of nucleic acids
      • Unit structure
        • DNA: deoxyribose, hydroxyl only 3'-carbon
        • RNA: ribose, 2' and 3' carbon atoms hydroxylated
        • Nucleotide monophosphates
        • Bases, pentose sugars, phosphates
        • Nucleic acids
        • Purines: adenine (A), guanine (G)
        • Pyrimidines: cytosine (C), thymine (T), uracil (U)
        • Sugar moiety: N-9, N-1
        • 5' carbon atom
        • 3 phosphate group alpha to gamma
      • Structure of the double helix of DNA
        • A-T, C-G pairs
        • Hydrogen bonds
        • Double stranded
      • Messenger RNA
        • Single stranded
        • mRNA, rRNA, tRNA
        • RNA polymerase II
        • Transcription
        • Intronic sequence, splicing
        • Poly(A) tail at 3'-end (50-500 base pairs)
        • Methyl-G residue at 5'-end
      • The nucleosome and higher-order structure
        • Histones: H2a, H2b, H3, H4
        • Nucleosome: DNA-Histone complex
        • Chromatin fibre
        • Non-histone  scaffold proteins
        • Heterochromatin: Densely packed chromatin
        • Autoantibodies to dsDNA in SLE
        • Drug-induced lupus
    • Genomic DNA: coding vs non-coding squences
      • Promoter
        • Binds DNA polymerase
          • Consensus sequence
            • TATA box (consensus TATAA)
            • GC box (consensus GGGCGG)
        • Binds to protein factors
        • Additional regulations by cytokines, hormones
      • Transcriptional start site
      • Exons: coding region
      • Introns: non-coding interverning region
        • Other non-coding genomic DNA: alphoid dan, telomeric repeats, minisatellites, microsatellites, SINES (short interspersed nuclear elements), LINES (long interspersed nuclear elements), HERV (human endogenous retroviruses)
      • Transcriptional stop site
      • 3% encodes protein
      • Repeat sequences in DNA
      • Codons
        • Translation
          • Polypeptide amino acid
          • mRNA
          • Triplet code
        • Anticodons
          • tRNA: 30 types, 20 amino acids, 3 termination codons, wobble hypothesis
        • Post-translational modifications
          • Protease cleavage
          • N-glycosylation
          • O-glycosylation
      • Splicing
        • Remove introns --> mature mRNA
        • Increase number of polypeptide products
          • Soluble secreted protein
          • Membrane-bound protein
    • Chromosome structure
      • 22 autosomes
      • 1 sex (x or y)
      • diploid: chromosome pairs
      • Specialised gametes or sex cells (sperm or egg cells): 1 copy autosomes and x ro y: haploid
      • Cell division
        • Mitosis
          • Nuclear genetic material duplicated
          • Full complement of chromosome pairs
        • Meiosis
          • Gametes
          • 2 stage
          • Exchange of genetic materials
      • Chromosomal abnormalities
        • Karyotype
        • Aneuploidy
          • Trisomy
          • Monosomy
        • Non-disjunction
  • Techniques in Molecular Biology
    • Blotting
      • Southern
      • Northern
      • Western
    • Polymerase chain reaction
      • Ingredient 
      • Steps 
      • Limitations 
      • Clinical applications
    • cDNA and reverse transcriptase
      • mRNA
      • cDNA
      • Cloning, PCR-RT
    • DNA sequencing
      • Sanger - modified
      • Primer
      • ddNTP
    • Cloning
      • Cell base multiplication 
      • Bacteria
      • Restriction site
      • Vector
    • Embryonic stem cell technology and gene targeting
      • Gene targeting 
      • Vector 
      • Embryonic stem (ES) cells
    • Fluorescence-based in situ hybridisation and comparative genome hybridisation
      • Metaphase
      • Use
      • Limitations
      • CGH
    • Whole genome expression analyses
  • Molecular Basis of Simple Genetic Trait
    • Mandelian inheritance patterns
      • Autosomal recessive 
      • Autosomal dominant 
      • X Linked
    • More complex genetic effects
      • Chronic illness = complex genetic traits
      • Sickle cell disease
    • Mutational basis of disease
      • Categories
      • Nomenclature
      • Functional sequences of point mutations
        • Protein function 
        •  mRNA
      • Splice-site mutations
      • 3 outcomes Premature stop codon, frameshift (cystic fibrosis, DMD)
    • Anticipation and triplet repeats
      • Dominant, meiosis 
      • Successive generation, paternal 
      • Disease phenotype
    • Molecular basis of mandellian dominance
      • Gain of function
      • Haploinsufficiency
      • Tumour suppresor
    • Single gene/multiple phenotypes
    • Mitochondrial diseases
      • mtDNA
      • Mutations
  • More Complex Issues
    • Imprinting
      • Differential expression of alleles
    • Linkage
      • In physical proximity 
      • Inherited together
      • Probability of linkage
      • Quantifying recombination
        • Production of genetic combinations not found in either parents 
        • Crossing-over during meiosis
      • Relationship between mapping distance and physical distance
        • Based on recombination frequencies
        • Base-by-base physical map
        • Radiation hybrids
      • The LOD score
    • Genetic markers
      • RFLP
      • VNTR
      • SSLP
      • SNP
    • Simple vs complex genetic traits
      • Complex: many genes contribute to susceptibility
    • Methods used to map disease genes
      • Pedigree-based linkage studies
      • Non-parametric linkage studies
      • The HapMap
    • Animal models
    • Genetic testing
    • Ethical issues


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