1.5

• DNA (deoxyribonucleic acid)


  The material inside the nucleus of cells, carrying the genetic information of a living being
• Double helix


  The shape of the DNA molecule with two strands twisted together in a spiral
• Genes


  Sections of DNA which code for a protein
• Genome


  The complete set of DNA found in an organism
• Nucleotide


  Made of a phosphate group, sugar and a base. A nucleotide is the units or molecules of which DNA or RNA is composed
• Pedigree analysis


  Similar to a family tree diagram, that shows the close relationship of those affected and unaffected by the disease within the family
• Pharmacogenetics


  The use of genome information in the choice of drugs
• Phylogenetics


  The study of evolutionary relatedness between groups of organisms
• The genome of an organism is its entire hereditary information encoded in DNA
• A genome is made up of genes (around 20,000 genes) and also contain many other DNA sequences that do not code for proteins
• Studying the human genome has led to some very important discoveries for Science and Medicine
• What studying the human genome allows us to do

  • Search for genes linked to different types of disease
  • Understand inherited disorders and their treatment
  • Trace human migration patterns from the past
• Scientists are searching for disease associated genes
• Genomic sequencing


  1. Determine the sequence of nucleotide bases for individual genes and entire genomes

  2. Use computer programs to identify base sequences by looking for sequences similar to known genes

  3. Use computer and statistical analyses (bioinformatics) to compare sequence data
• Sequencing information can be compared with the genes or genomes of other individuals or the genetic information of different species to look for similarities and differences
• What sequencing information allows us to do

  • Have a comparison of genomes from different species in research
  • Research personal genomics and health
  • Carry out phylogenetics
• BRCA1 and BRCA2


  Genes that scientists have been searching for that can contribute to breast cancer
• Mutations in the BRCA1 and BRCA2 genes account for approximately 10% of all inherited breast cancer cases detected
• It is now possible to detect the presence of the BRCA1 and BRCA2 genes by having a simple blood test
• Scientists were able to create a pedigree analysis, by studying individuals in families known to have inherited breast cancer. The pedigree analysis illustrates the inheritance pattern of the disease
• Personal genomics and health

  An individual's genome can be analysed to predict the likelihood of developing certain diseases
• Medical researchers may use genomic information to compare the DNA of individuals who bear an inherited disease with those who are unaffected. Differences between their genomes may reveal the precise mutation and cause of the condition
• Pharmacogenetics and personalised medicine

  An individual's personal genome sequence can be used to select the most effective drugs and dosage to treat their disease
• It is also possible to identify variations in a person's genome that predicts how well that personal will respond to certain drugs
• Explain


  You must relate cause and effect and/or make relationships between things clear. You should state the reasons for something happening. The answer must be linked coherently and logically
• Evaluate


  You must make a judgement based on what you know or have been given or determine the value of something