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HUMAN GENOME PROJECT
 By..
 V. Padmasri
 2 M. Sc Microbiology
Introduction of HGP
 The Human Genome Project was an international scientific research
project that aimed to determine the complete sequence of nucleotide
base pairs that make up human DNA and all the genes contains.
 It remains the world’s largest collaborative biological project.
 The idea was picked up in 1984 by the US government when the
planning started the project was formally launched in 1990 and was
declared complete in 2003
Goals of the human genome project
 Optimization of the data analysis.
 Sequencing the entire genome.
 Identification of the complete human genome.
 Creating genome sequence databases to store the data.
Steps of the Human Genome Project
1. The whole DNA of the cell is isolated and randomly broken into fragments.
2. They are inserted into special vectors like BAC (Bacterial Artificial Chromosomes) and YAC
(Yeast Artificial Chromosomes).
3. These fragments are then cloned into suitable hosts like bacteria and yeast.
4. A Polymerase Chain Reaction (PCR) is used to make copies of DNA fragments.
5. The fragments are sequenced using Sanger sequencing.
6. The sequences are then arranged based on the overlapping regions.
7. The sequences were then annotated and assigned to different chromosomes.
8. The genetic and physical maps are also made with the help of polymorphism of microsatellites
and restriction endonuclease.
Salient Features of the Human Genome Project
 The human genome is made up of 3164.7 million nucleotides.
 The human genome contains approximately 30,000 genes. It was previously estimated
that it contained 80,000 to 100,000 genes. The number of genes in humans is roughly
equal to that of mice.
 More than half of the discovered genes' functions are unknown.
 Proteins are coded for in less than 2% of the genome.
 Approximately 1 million copies of short 5-8 base pair repeated sequences are clustered
around centromeres and near the ends of chromosomes. They represent junk DNA.
 Chromosome I has the most genes (2968) and Y has the fewest (231).
 In humans, there are approximately 1.4 million locations where single-base DNA
differences (SNPs- Single nucleotide polymorphism) occur.
Technique Used in HGP:
• The Human Genome Project used Sanger sequencing to
determine the sequences of relatively small fragments of
human DNA (900 bp or less).
• These fragments were then used to piece together larger DNA
fragments and, eventually, entire chromosomes.
• The advancement of next-generation sequencing (NGS)
technologies has accelerated genomics research.
Applications of Human Genome Project
• Gene discovery also opens up the possibility of developing gene-based treatments
for both hereditary and acquired diseases.
• It's detailed genetic, physical, and sequence maps will also be critical in
understanding the biological basis of complex disorders caused by the interaction
of multiple genetic and environmental influences, such as diabetes, heart disease,
cancer, and psychiatric illnesses such as alcoholism.
• It helps in the identification of mutations linked to different forms of cancer.
• It also helps in advancing research in Forensic Sciences.
• Agriculture, environment, and biotechnology are some other fields that have
benefitted from the use of human genome projects.
human genome project_094513.pptx

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human genome project_094513.pptx

  • 1. HUMAN GENOME PROJECT  By..  V. Padmasri  2 M. Sc Microbiology
  • 2. Introduction of HGP  The Human Genome Project was an international scientific research project that aimed to determine the complete sequence of nucleotide base pairs that make up human DNA and all the genes contains.  It remains the world’s largest collaborative biological project.  The idea was picked up in 1984 by the US government when the planning started the project was formally launched in 1990 and was declared complete in 2003
  • 3.
  • 4.
  • 5. Goals of the human genome project  Optimization of the data analysis.  Sequencing the entire genome.  Identification of the complete human genome.  Creating genome sequence databases to store the data.
  • 6. Steps of the Human Genome Project 1. The whole DNA of the cell is isolated and randomly broken into fragments. 2. They are inserted into special vectors like BAC (Bacterial Artificial Chromosomes) and YAC (Yeast Artificial Chromosomes). 3. These fragments are then cloned into suitable hosts like bacteria and yeast. 4. A Polymerase Chain Reaction (PCR) is used to make copies of DNA fragments. 5. The fragments are sequenced using Sanger sequencing. 6. The sequences are then arranged based on the overlapping regions. 7. The sequences were then annotated and assigned to different chromosomes. 8. The genetic and physical maps are also made with the help of polymorphism of microsatellites and restriction endonuclease.
  • 7. Salient Features of the Human Genome Project  The human genome is made up of 3164.7 million nucleotides.  The human genome contains approximately 30,000 genes. It was previously estimated that it contained 80,000 to 100,000 genes. The number of genes in humans is roughly equal to that of mice.  More than half of the discovered genes' functions are unknown.  Proteins are coded for in less than 2% of the genome.  Approximately 1 million copies of short 5-8 base pair repeated sequences are clustered around centromeres and near the ends of chromosomes. They represent junk DNA.  Chromosome I has the most genes (2968) and Y has the fewest (231).  In humans, there are approximately 1.4 million locations where single-base DNA differences (SNPs- Single nucleotide polymorphism) occur.
  • 8. Technique Used in HGP: • The Human Genome Project used Sanger sequencing to determine the sequences of relatively small fragments of human DNA (900 bp or less). • These fragments were then used to piece together larger DNA fragments and, eventually, entire chromosomes. • The advancement of next-generation sequencing (NGS) technologies has accelerated genomics research.
  • 9. Applications of Human Genome Project • Gene discovery also opens up the possibility of developing gene-based treatments for both hereditary and acquired diseases. • It's detailed genetic, physical, and sequence maps will also be critical in understanding the biological basis of complex disorders caused by the interaction of multiple genetic and environmental influences, such as diabetes, heart disease, cancer, and psychiatric illnesses such as alcoholism. • It helps in the identification of mutations linked to different forms of cancer. • It also helps in advancing research in Forensic Sciences. • Agriculture, environment, and biotechnology are some other fields that have benefitted from the use of human genome projects.