BY5.6 Human Genome Project

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Human Genome Project

  • human DNA consiss of 300million bases
  • began in 1990
  • aimed to determine the order of bases int eh human genome and identifying genes, their seuqence and mapping them
  • genome: all the DNA in an organism including its genes


  • genes carrying the infomration required for making all of the proeins needed by the organism
  • these protwins determine the oragnisms appearance, how it fights infection etc.

Main aims:

  • determine the sequence of A,T,C,G throughout all human DNA
  • identify al the genes formed by the bases
  • find the locations of the genes on the 23 human chromosomes
  • store this information in a database
  • consider all issues (soical, economic, legal) that arise from obtaingin this information about the human genome

Beneficial applications of the project:

  • enables scientists to know which sections of the DNA on which chromosomes are responsible for different inherited diseases
  • in gene tests scientists scan a DNA sample for the mutated sequence
  • DNA can be obtained from any tissue including blood
  • in one form of teating probles (short pieces of DNA) seek out theit complement amongst the DNA
  • if the mutated sequence is present, the probe will bind to  it and flag the mutation
  • another form: compairing sequences of DNA bases in genes to a normal versio of the gene
  • testing is expensive
  • its cost depends on the size of the genes and the number of mutations being tested

Main uses for genetic testing:

  • carrier screening
  • pre implantation scrrening
  • new born baby sceening
  • presymptomatic testing for predicitng adult onset disorders
  • presymptomatic testing for estiamting the risk of developing adult onset cancers and Alzheimers
  • confromation that an individual has a suspected disease
  • forensic/identity testing
  • once a sequence of bases is known a test can be devised to see if it is present in the paitnet
    • using a sample of DNA, you can identify if the person is a carrier of the faulty genes
    • carriers may decide to not hvae kids or to have antenatal scans for the diseas
  • give an idea to the possibility of developing a disease
    • those at the greatest risk can be scanned at regualr intervals and given approporaite advce on how to reduce the risk by changing their lifestyle
    • more cost effective in the long run
    • beneficial to the populatio
  • once a base sequence is knonw it is possible to find the protein it codes for
    • once the structure of the gene is known, it is possible to design drugs whose molecules fit it perfectly
    • may be possible to design drugs who act agains the gene


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