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CONTENTS

1:-Introduction

2 :-What is the Human Genome Project

3 :-Aim and Objective of the Human Genome project

4 :-Steps of the Human genome Project

5 :-Salient features of the Human Genome Project

6:-The Technique Used in HGP

7:-Application of Human Gnome Project

8 :-Conclusion
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.
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.

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.
Aim and Objective of the Human Genome Project

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.


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 fragment 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.
Steps used in Human Genome Project Image

Salient Features of the Human Genome Project


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.
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).

In humans, there are approximately 1.4 million locations where


single-base DNA differences (SNPs- Single nucleotide
polymorphism) occur.
Structure of DNA
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 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.
Diversity of Genomic Applications to Various Fields
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.

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