genes, gene expression and disease

• What are diseases of genetic origin?

  Diseases caused by genetic mutations
• What mechanisms lead to genetic diseases?

  Mutations in genes affecting normal function
• What is the significance of the 100,000 Genomes Project?

  Integrates genomic medicine into the NHS
• Why is DNA considered the carrier of genetic information?

  It can replicate, transcribe, and repair itself
• What is the role of replication in DNA?

  Accurately copies genetic information
• What is the function of transcription and translation in DNA?

  Blueprint for organism's structure and function
• What is the purpose of recombination and repair in DNA?

  Maintains genetic stability through changes
• What is translation in genetics?

  Process of synthesizing proteins from mRNA
• How can genetic mutations lead to disease?

  They disrupt normal gene function
• What are point mutations?

  Single base pair changes in DNA
• What are transitions in point mutations?

  Purine to purine or pyrimidine to pyrimidine
• What are transversions in point mutations?

  Purine to pyrimidine or vice versa
• What is a missense mutation?

  Codon change leads to a different amino acid
• What is a nonsense mutation?

  Codon changes into a STOP codon
• What is a frameshift mutation?

  Insertions or deletions disrupt the reading frame
• What causes α-Thalassemia?

  Deletions/mutations in HBA1 & HBA2 genes
• What causes β-Thalassemia?

  Mutations in the HBB gene
• What is the carrier frequency of Cystic Fibrosis?

  1 in 22 individuals
• What type of disease is Cystic Fibrosis?

  Autosomal recessive disease
• What are the main effects of Cystic Fibrosis?

  Chronic infections and pancreatic enzyme deficiency
• What is the most common mutation in Cystic Fibrosis?

  ΔF508 mutation in CFTR gene
• How many mutations have been identified in Cystic Fibrosis?

  Over 1,100 mutations
• What diagnostic methods are used for Cystic Fibrosis?

  PCR & Sequencing detect mutations
• What is the purpose of multiplex PCR?

  Screen multiple mutations simultaneously
• What type of disorder is Huntington’s Disease?

  Autosomal dominant disorder
• What is the prevalence of Huntington’s Disease in Caucasians?

  1 in 10,000 individuals
• What causes Huntington’s Disease?

  CAG trinucleotide repeat expansion in HTT gene
• What is the typical onset age for Huntington’s Disease?

  Typically in mid-life
• What is the purpose of mouse models in Huntington’s Disease research?

  Understand disease progression and test therapies
• What is gene therapy?

  Technique for correcting defective genes
• What is the goal of gene therapy?

  Permanently correct a genetic defect
• What is gene replacement therapy?

  Insert a healthy copy of a defective gene
• What is gene augmentation therapy?

  Add extra copies of a functional gene
• What is targeted gene silencing?

  Suppress oncogenes or malfunctioning genes
• What is cell targeting therapy?

  Use genetic techniques to kill specific cells
• What makes a good candidate for gene therapy?

  Monogenic disorder with known gene
• What is the prevalence of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

  1 in 800 – 1 in 1000 people
• What are the effects of ADPKD?

  Fluid-filled cysts develop in kidneys
• What is the typical outcome for individuals with ADPKD?

  Leads to renal failure by ages 30-50
• What is the prevalence of Autosomal Recessive Polycystic Kidney Disease (ARPKD)?

  1 in 20,000 – 1 in 40,000 newborns