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HUMAN GENOME PROJECT
1 Page TABLE OF CONTENT SI.NO TITLE PAGE NO 1 INTRODUCTION 3
WHAT IS HUMAN GENOMO
2 4 PROJECT
3 AIM AND OBJECTIVE 6
4 STEPS 7 5 SALIENT FEAUTURES 8 6 TECHNIQUES USED IN HGP 11 7 APPLICATIONS 11 8 CONCLUTION 13 2 Page INTRODUCTION The Human Genome Project is based on the fact that isolating and analysing the genetic material contained in DNA can provide scientists with powerful new approaches to understanding disease development and developing new strategies for disease prevention and treatment. Except for physical injuries, nearly all human medical conditions are linked to changes (i.e., mutations) in the structure and function of DNA. The HGP accelerated the growth of bioinformatics, a vast field of study.
The project's primary goal is to create research tools
that enable scientists to identify genes involved in rare and common diseases. In this article, we will study the various features of this megaproject as well as its applications in various fields, and the steps taken up by scientists to sequence the whole genome. 3 Page WHAT IS THE HUMAN GENOME PROJECT?
The Human Genome Project is an international
research project with the primary goal of deciphering the chemical sequence of the entire human genetic material (i.e., the entire genome). It identifies all 50,000 to 100,000 genes contained within the genome and provides research tools to analyse all of this genetic information.
After the US government picked up the idea in
1984 and began planning, the project was formally launched in 1990 and completed in 2003.
The National Institutes of Health (NIH) of the
United States, as well as numerous other organisations from around the world, provided funding.
The Human Genome Project (HGP) aims to
determine the sequence of chemical base pairs that comprise human DNA, map the entire human genome, and identify its complex structures and functions. 4 Page Differences in the genetic make-up are caused by differences in DNA nucleotide sequences. The goal of scientists has always been to map the human genome. Advances in genetic engineering techniques have made it possible to isolate and clone DNA fragments and determine their nucleotide sequences.
The HGP has transformed biology with its
multidisciplinary approach to deciphering a reference human genome sequence.
This audacious endeavour resulted in the creation
of novel technologies and analytical tools.
Finally, the HGP has inspired several other exciting
projects that have the potential to open up new avenues in biology, medicine, and psychology. 5 Page AIM AND OBJECTIVE
To sequence the whole genome at 3 billion bps.
To create a physical map of the human genome.
To store this information in the database.
To improve the tools for data analysis.
To transfer this information to the other related
industries.
To solve any ethical, legal, or social issues regarding
this project.
To make the information available to all
the researchers. 6 Page STEPS OF THE HUMAN GENOME PROJECT
The whole DNA of the cell is isolated and randomly
broken into fragments.
They are inserted into special vectors like BAC
(Bacterial Artificial Chromosomes) and YAC (Yeast Artificial Chromosomes).
These fragments are then cloned into suitable hosts like
bacteria and yeast.
A Polymerase Chain Reaction (PCR) is used to make
copies of DNA fragments.
The fragments are sequenced using Sanger sequencing.
The sequences are then arranged based on the
overlapping regions.
The sequences were then annotated and assigned to
different chromosomes.
The genetic and physical maps are also made with the help of polymorphism of microsatellites and 7 Page
restriction endonuclease. SALIENT FEATURES
The human genome is made up of 3164.7 million
nucleotides.
The average gene is 3000 base pairs long. On the
X-chromosome, the largest gene is Duchenne Muscular Dystrophy. It has 2.4 million base pairs (2400 kilo). The genes for B-globin and insulin are less than 10 kilobases long. 8 Page 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.
Repetitive sequences are nucleotide sequences that
are repeated hundreds or thousands of times. They do not directly code but provide information about chromosome structure, dynamics, and evolution.
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). 9 Page In humans, there are approximately 1.4 million locations where single-base DNA differences (SNPs- Single nucleotide polymorphism) occur. 10 Page THE 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
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 11 Page 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. 12 Page
CONCLUSION The Human Genome Project (HGP) is an international scientific research project that aimed to identify, map, and sequence all of the genes in the human genome from both a physical and functional standpoint. Each individual's "genome" is unique; mapping the "human genome" requires sequencing a small number of individuals and then assembling these to obtain a complete sequence for each chromosome. As a result, the completed human genome is a combination that does not represent any single individual. 13 Page
