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•  The genome is the whole of the genetic information of an organism

The genome is the totality of genetic information of a cell, organism or organelle

  • This includes all genes as well as non-coding DNA sequences (e.g. introns, promoters, short tandem repeats, etc.)

The human genome consists of:

  • 46 chromosomes (barring aneuploidy)
  • ~3 billion base pairs
  • ~21,000 genes

Genomic Organisation Analogy


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•  The entire base sequence of human genes was sequenced in the Human Genome Project

The Human Genome Project (HGP) was an international cooperative venture established to sequence the human genome

  • The HGP showed that humans share the majority of their sequence, with short nucleotide polymorphisms contributing diversity

The completion of the Human Genome Project in 2003 lead to many outcomes:

  • Mapping – The number, location, size and sequence of human genes is now established
  • Screening – This has allowed for the production of specific gene probes to detect sufferers and carriers of genetic diseases
  • Medicine – The discovery of new proteins have lead to improved treatments (pharmacogenetics and rational drug design)
  • Ancestry – Comparisons with other genomes have provided insight into the origins, evolution and migratory patterns of man