Application and reproduction of genetics

• What is the Human Genome Project?
• A UK Government project that aims to study variation in the human genome amongst 100,000 UK citizens. It uses Next Generation Sequencers (NGS)
• Outline the potential benefits of the Human Genome Project
• Identifying the base sequence of a DNA fragment
• Describe genetic counselling
• Genetic screening


  • Testing individuals for certain faulty alleles
  • Used to detect disorders such as cystic fibrosis, Huntington’s disease and thalassemia
• A method of DNA sequencing that only sequences relatively short sections of DNA at a time. It takes a long period of time
• What is DNA sequencing?
• A faster, cheaper and more accessible method of sequencing that can sequence an entire genome in a few hours
• What is the 100K Genome Project?
• What is genetic screening?
• Potential disadvantages of genetic screening

  • Screening for conditions such as cancer and Alzheimer’s disease only indicates an increased risk - may cause unnecessary stress and anxiety
  • What happens to the test result data? Discrimination from employers or insurance companies? Misuse of information?
  • Risk of false positives
• Potential benefits of the Human Genome Project

  • Allows for the development of targeted, personalised medical treatments and greater accuracy of diagnosis
  • Increased opportunities for screening genetic conditions and early detection of disease
  • Enables the study of incidences of mutation in different genes
• Genetic counselling


  • Service that provides information and advice to people affected by or at risk of genetic diseases
  • Helps individuals and families to make informed decisions
• An international research project involving thousands of scientists which used Sanger sequencing to successfully map the entire human genome
• What is Sanger sequencing?
• Describe Next Generation Sequencing (NGS)
• Outline the potential disadvantages of genetic screening
• Advantages of sequencing the genome of the Plasmodium sp. to humans

  • Plasmodium sp. has developed multi-drug resistance
  • Enables the development of more effective drugs
• Disadvantages of genetic screening

  • Screening for conditions such as cancer and Alzheimer’s disease only indicates an increased risk - may cause unnecessary stress and anxiety
  • Risk of discrimination from employers or insurance companies
  • Risk of misuse of information
  • Risk of false positives or false negatives
  • Limited funds and time for screening
  • Screening embryos could lead to ‘designer babies’
• What are exons?
• Non-coding sequences of DNA
• What techniques can be used to produce a genetic fingerprint?
• PCR

  • Polymerase Chain Reaction
  • An in vitro technique used to rapidly amplify fragments of DNA
• STRs

  • Short Tandem Repeats
  • Sections of repeated nucleotides within introns that produce variation in individuals
• What is PCR?
• How has sequencing the genome of the mosquito, Anopheles gambiae, been useful to humans?
• State some applications of genetic fingerprinting
• What are introns?
• Organisms whose genomes have been sequenced

  • Chimpanzees and other primates
  • Anopheles gambiae, the mosquito
  • Plasmodium parasite
• Region of DNA that code for an amino acid sequence
• Describe the reaction mixture in the first stage of PCR
• What is genetic fingerprinting?
• What are STRs?
• PCR and gel electrophoresis
• Recombinant DNA is a combination of DNA from two different organisms
• Gel electrophoresis is a technique that separates nucleic acid fragments or proteins by size using electric current
• Reaction mixture in the first stage of PCR

  Contains the DNA fragment to be amplified, primers that are complementary to the start of the fragment, free nucleotides to match up to exposed bases, and Taq DNA polymerase to create the new DNA
• PCR stands for Polymerase Chain Reaction
• Taq DNA polymerase is a thermally stable enzyme that synthesizes a double-stranded molecule of DNA from a single template strand using complementary nucleotides