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Human Genome Project

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CISCE: Class 12

Key Points: Human Genome Project

  • The Human Genome Project (HGP) was proposed in 1986 to map and sequence the entire human genome.
  • It was an international effort involving about 100 laboratories from nearly 18 countries.
  • The main goals included identifying all human genes, sequencing three billion base pairs, and storing data in databases.
  • Two major approaches were used: Expressed Sequence Tags (ESTs) and whole genome sequencing with annotation.
  • DNA fragments were cloned using BAC and YAC vectors in bacteria and yeast for sequencing.
  • The human genome contains about 3.2 billion nucleotide bases and approximately 20,000–30,000 genes.
  • Less than 2% of the genome codes for proteins, while repetitive DNA forms a large portion.
  • About 99.9% of DNA sequences are identical among all humans; variations include SNPs and CNVs.
  • HGP has applications in disease diagnosis, genetic counselling, gene therapy, and understanding human evolution.
  • Ethical concerns include misuse of genetic data for discrimination, insurance denial, and attempts at genetic manipulation.

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