HBG 28 ( Application of Genetics)

• Genetic techniques are used in disease management to improve screening, diagnosis, and therapies
• Genetics has improved the world by providing new, effective, targeted, personalized, and affordable treatments with low side effects
• Genetic tools for screening and diagnosis include DNA analysis and Chromosome Analysis
• Chromosome Analysis #1 - Karyotyping:

  • Takes a snapshot of the entire chromosome; genome-wide image
  • Pairs and orders all the chromosomes
  • Looks for physical abnormalities
• Chromosome Analysis #2 - Fluorescent in situ Hybridisation (FISH):

  • Detects chromosome deletion, duplication, and translocation
  • Uses polynucleotides with a fluorescent tag to bind to genes of interest
  • Detects signals to identify abnormalities
• Chromosome Analysis #3 - Comparative Genomic Hybridisation (CGH):

  • Compares patient's DNA with reference DNA to detect chromosomal copy number changes
  • Used to choose healthy embryos for implantation in IVF clinics
• Genetic screening and diagnosis at the nucleotide level involves DNA sequencing and PCR methods to detect DNA mutations
• PCR-based technology is used to detect point mutations by mixing polynucleotides with a fluorescence tag with patient DNA and performing PCR to generate signals indicating mutations
• Therapeutics in genetics include targeted therapy, personalized medicine, gene therapy, and gene editing
• Gene therapy involves replacing mutated genes with healthy genes to treat genetic disorders
• Luxturna is a gene therapy administered to patients with vision loss due to mutations in the RPE65 gene, restoring vision by providing a working copy of the gene
• Gene editing aims to correct point mutations in genetic disorders