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The Human Genome Project: Aims, Objectives,

Techniques and Outcomes
Leave a Comment / Genetic Education, Genome / By Hetaxi Dave / 05/10/2020 / 10
minutes of reading

“The human genome project was initiated in 1990 in order to sequence the whole
genetic content of the human genome and other species to know genes and their
functions.”
The human genome is the collection of all the genetic information of a cell
including coding, non-coding and regulatory elements.

The genome of us is a mysterious thing! It’s a collection of all DNA, some are
protein-coding, some are not, some help in the regulation of gene expression and
some are just sequences.

The molecular structure of DNA was just postulated in 1953 by Watson and Crick
earlier, scientists were aware that something is inherited from parents to their
offspring but didn’t know that exactly it is.

Even Though the inheritance of traits was conceptualized by Mendel in the 18s,
genes were known to us in the early 19s. After the postulation of the molecular
structure of DNA, researchers know that change in DNA sequence, as well as
content, influences one’s health adversely.

To understand genes, their structure, function and role in disease, the concept of the
human genome project came to light. Further, the outline of the human genome
project was designed to unfold the mystery of the human genome and see inside it.

The funds for the project were raised by the US Department of Energy and National
Institute of Health, collectively.

In the early 90s, the human genome project was developed to determine the
sequence of the entire human genome and completed in 2003. The human genome
project has an extraordinary trove of information about DNA sequences, genes, non-
coding elements and gene expression.

The information helps to understand human development, physiology, medicine

and evolution.

It is a larger genome that has been sequenced so far with a lot of information
tailored in three billion chemical base pairs. This article includes the ethical, legal
and social implications that might arise from coding the entire human genome.

The talk of the present topic is one of the most fascinating and anticipated projects
of mankind, that is the “human genome project”.
 Key Topics:
A short history:
Aims and objectives of HGP:
Techniques used in HGP:
Outcomes of HGP:
Importance of HGP
Ethical, legal and social implications
Applications of human genome project:
Conclusion:

A short history:
The idea of sequencing the human genome was first proposed in the USA
committee appointed by the US national research council. It refers to the
international 13-year effort, formally begun in October 1990 and completed in 2003,
to discover all estimated 20,000 to 25000 human genes.

Another goal of projects is to determine the complete sequence of the 3 billion DNA
subunits. The first genetic map was completed in September 1994 while the
physical map with 30,000 or more STSs was completed in October 1998.

The sequencing of 99% of portions of gene-rich regions was completed in April

2003. Meanwhile, identification and characterization of disease-causing genes,
sequencing of other model organisms and other uncompleted tasks that were done
in the same year.

Related article: DNA: Definition, Structure and Function.

Aims and objectives of HGP:

The Human genome project was started in the 90s and completed after almost 13
years of hard work by scientists.

The project was designed not only to sequence the whole genome but also to make
it readily accessible for scientists across the world. To fulfill the present aim,
initially, more than 200 different genetic laboratories from the USA and 18 different
countries had taken part to support the project.
Also, the project was a kind of open initiative in which any country can take part to
support the human genome project.

The core values or objectives of the present projects are to tailor a physical or
genetic map of the whole human as well as mice genome.

To sequence both the genome and other genomes like yeast and microbes in order
to use it as a test run for human genome sequencing.

Overall, two broader objectives of it are:

1. Creating a physical map of the human genome

2. To sequence the whole genome of around 3 billion base pairs.

Other objectives are,

To make the information available for all researchers thereby developing a

computational system to store, transfer, process and retrieve the data across the
world.

To identify all the disease-causing genes.

To understand the function of genes

To map and tag genes on chromosomes.

To develop tools to process and analyze data.

 The aims and objectives of the human genome project.

Note that only the euchromatin region of the chromosomes which are the gene-rich
regions are only sequenced during the human genome project. The non-coding
heterochromatin regions were excluded from the project which is the centromeric
and telomeric regions and is gene fewer regions.

Techniques used in HGP:

Initially, the shotgun sequencing technique was used to initiate the human genome
project. The present technique was powerful enough to sequence the whole genome
at that time.

The whole project using the SGS is divided into two phases; in the initial phase,
approximately 90% of DNA (coding genes) would be sequenced while in the later
phase, the remaining gaps and breaks would be filled using the data of physical
mapping.
 A brief overview of the shotgun sequencing method.

The overview of the technique is explained here;

DNA extraction is performed followed by the restriction digestion that makes

chumps of larger DNA fragments. The endonucleases cleave DNA into thousands of
fragments.

Later the fragments are inserted into the BAC- bacterial artificial chromosomes and
a library of fragments are constructed.

Soon after, digested fragments are further divided even smaller fragments are
ligated into the plasmid vector.

These smaller fragments are sequenced in amplification reactions. This is a

comprehensive overview of the shotgun technique used in sequencing.

Besides the shotgun sequencing technique, secondary techniques like PCR, FISH,
restriction digestion and Sanger sequencing are also practiced to achieve various
milestones during the human genome project.

For example,

Restriction digestion technique is used to construct the restriction map. HindIII,

EcoRI, PstI and other restriction endonucleases are employed to digest the genomic
DNA in order to produce sticky end and blunt-end DNA fragments.

The restriction endonuclease cleaves DNA at its known recognition sites. These
fragments are either ligated into BAC or plasmid.

The application of polymerase chain reaction here is to amplify the DNA fragments
to success in DNA sequencing.

The chromosomal map by sequence-tag sites was also generated by utilizing the
PCR technique.

Here the set of known primers were allowed to amplify 500 to 600 bp fragments of
DNA- STSs within the vector library. STS- amplification allows mapping DNA
sequences on chromosomes.

The fluorescence in situ hybridization technique was also practiced to construct the
physical map of chromosomes. It is a hybridization-based technique in which the
known DNA probes hybridize on complementary regions of chromosomes.

Moreover, tools like Restriction enzymes, ligases, helicases, BAC, plasmids and other
biological tools were also used during the human genome project.

Outcomes of HGP:
After completion of the project, scientists have gained tremendous information
regarding the genome of us. A glimpse of some of them are here;

In the human genome, 25,000 – 30,000 protein-coding genes are present which is
two times larger than other eukaryotes such as worm and fly. It is obvious that the
human genome is more complex with more alternating splicing generating more
protein products.
Genes are supposed to be derived from the transposable elements and horizontal
gene transfer from bacteria.

Mutation rates are twice as high in males as females.

The cytogenetic analysis also revealed that the ‘Gene rich’ rich regions stain lighter
while ‘Gene poor’ regions stain darker by G bands.

Some numbers of HGP:

The human genome contains 97% repetitive junk DNA content.

Only 2 to 3% portion of the genome encodes proteins
The human genome contains 3.2 bbp, which means 6.4 bases which are
approximately 3164.7mb.
Around 25,000 to 30,000 genes are present in the human genome in which the
average length of a gene is 3000 base pairs.
The largest gene is the dystrophin having 2.4Mb in size.
All the genetic content of a cell is located on 23 pairs of chromosomes.
The genome of us has 1.4 million known SNPs.

Importance of HGP

The human genome project was established aiming to diagnose genetic disease and
to know the predisposition of disease in order to improve the drug delivery system.

Using gene therapy more precisely to treat and cure disease. A mutant gene can be
repaired or replaced through gene therapy.

To study the risk of toxic exposure to individuals and how it impacts the genetics of
individuals.

To study the evolution through germline gene therapy and migration of races and
species.

Identification and classification of organisms by DNA sequencing.

Read more: What is DNA sequencing?- Beginner’s guide.

Ethical, legal and social implications
HGP assists scientists with the knowledge of gene sequence and they can modify it
by knocking out or knocking in, though because of gene-gene and gene-
environment interactions, it is difficult to predict the effect of many such
interconversions.

As the project progressed, it had created controversies and ethical issues. For
instance, One biggest controversy arose when NIH applied for patenting some cDNA
sequences of genes, even without knowing their functions. Genes can’t be patented.

Implementations of medical activities raise many ethical and legal controversies,

such as those related to the nature of informed consent that should be guaranteed to
those who have a genetic test.

Also, the issues related to privacy and confidentiality of genetic information of a

person and much further lead to psychological impact and social stigmatization on
an individual due to genetic differences.

People would be discriminated against because of their DNA that increases the
chances of getting a certain disease.

Applications of human genome project:

Diagnosis of disease:

The prime goal to conduct the human genome sequencing is to know the location of
disease-causing genes. By knowing the structure, function, or location of genes
related to the disease can be understood more. Thereby inherited, non-inherited,
chromosomal as well as gene-disease can be diagnosed.

Nowadays various disorders like cystic fibrosis, hemophilia, thalassemia, sickle cell
anemia, Huntington’s disease and diabetes-like disorders can be diagnosed using
the genetic technique.

The information gained from the HGP has already been used in the healthcare
industry. Publicized successes are cloning of genes responsible for the Duchenne
muscular dystrophy, retinoblastoma, cystic fibrosis and neurofibromatosis.
If other diseases related genes are isolated, scientists can begin to understand the
structure and pathology of disorders like heart disease, cancer, diabetes. This would
lead to better medical management of these disorders and pharmaceutical
discovery.

Curing genetic disorders:

Gene therapies, gene transfer techniques and genetic engineering tools make it
possible to cure genetic disorders by removing, altering or replacing the faulting
gene or portion of a gene.

Gene therapies, though are still under preclinical phases, are the futuristic novel
approach to treat genetic disorders. Here the gene of interest is first introduced into
the vectors and transferred to the target location.

In vivo, in vitro, germ-line and somatic cell gene therapies are popular types of it.

Gene
Explanation
therapy

In vivo Performed inside body or living cell.

In vitro Performed outside body or living cell, in the lab.

Somatic Performed on the somatic cells and thus restricted to some tissues or
cell portion of a body.

Performed on the germ cells thus transfer to the fetus and next
Germline
generations.

Related article: What is gene therapy? and how does it work?

Genetic or molecular medicines:

Again the futuristic and novel approach to design medicine specific to a particular
gene or to influence the function of only a gene or genetic disorder we wish to treat
sounds like a fairy tale.
genetic screening will enable rapid and specific diagnostic tests making it possible
to test countless maladies. Genetic medicines will enable healthcare workers to
treat a disease with a specific treatment.

Conclusion:
Conclusively, the Human genome project was one of the most challenging tasks,
though, an important part of world history. Because, We had sequenced the whole
genome, every single nucleotide of a genome.

The project was declared as completed in 2003, however, some portions and gaps
also remained unfilled, which were later on sequenced and mapped on
chromosomes.

Sources:

Collins FS, Fink L. The Human Genome Project. Alcohol Health Res World.
1995;19(3):190-195.

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