Understanding:
• 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
Understanding:
• 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