Introduction to human genome
human genome is known as the complete set of nucleic acid sequences for humans
which is encoded as DNA with the 23 chromosome pairs found inside the cell
nuclei and also in a small DNA molecule found to be within the mitochondria. 1
Human Genome Project (HGP) is 13 years international project. It began on 1990
on October. Reason why HGP is important is because it helps in using the DNA
information so that it develops new ways to treat, prevent, or cure the
thousands of diseases that will afflict humankind. The road taken from the gene
identification till the effective treatments is seen to be fraught and also
long with challenges.
goals of the Human Genome Project are to identify approximate 30,000 genes
found in the human DNA. It determines 3 billion chemical bp sequences that make
up our DNA and store this information in databases. It helps in the
improvements of the tools for data analysis, transferring all related
technologies for private sector and helps in addressing the legal, ethical and
social issues which may arise from the project. 2
Project was seen to develop with the collaboration with the US Department of
Energy in 1989. Mapping in human genome started at 1990.
In 1993, there
was an expansion of the role on NIH campus for studying certain disease.
In 1996, the
Center for Inherited Disease Research was made.
In 1997, NHGRI
been officially elevated to the status of the institute of the research.
2003, human genome project was completed.
Techniques enabled human genome
(a) DNA Sequencing is known as the sequencing
methods which determine the order of the nucleotide bases—adenine, cytosine,
guanine, and thymine—in a molecule of DNA. There are two methods which are: – Maxam Gilbert technique, that uses
chemicals to cleave DNA into fragments at specific base pairs, and the Sanger technique. It is also called
the di-deoxy/chain-terminating method. This uses DNA polymerase for making new
DNA chains, in the presence of di- deoxynucleotides chain terminators for
stopping the chain randomly as it grows. For both cases, the DNA fragments are
going to separated according to the length by polyacrylamide gel electrophoresis.
This helps to enable the sequence to be read from the gel.
Restriction Fragment-Length Polymorphisms (RFLP).
Yeast Artificial Chromosomes (YAC) is a vector (carrier) created and also used
in the laboratory to clone pieces of the DNA. YAC is constructed from a
telomeric, centromeric, and a replication origin sequences that is needed for
replication in yeast cells. The telomere is found at the end of the chromosome;
the centromere is found at the chromosome region to which spindle fibers attach
during cell division; and finally for the replication origin sequences are the
spots where you’ll find the replication of DNA starts.
Bacterial Artificial Chromosomes (BAC) is where a large segment of DNA
containing (100,000—200,000 bp) from another species is cloned into the
bacteria. After foreign DNA has been cloned inside the host bacteria, many
copies can be made. It’s a large insert cloning vector which is capable of
handling large segments of the cloned DNA, typically found to be around 150 kb.
BACs can be increased in Lab strains of Escherichia coli (E.coli).
Polymerase Chain Reaction (PCR).
Ethical, legal and social implications
Ethical, Legal, and Social Implications (ELSI) program was found in 1990, as an
integral part of the Human Genome
Project. The goal of the ELSI program was to identify and address issues
that are raised by the genomic research that would affect the individuals,
families, and society.
focused on the possible consequences of genomic research in 4 main areas:
Privacy and fairness in the use
of the genetic information, including mainly the potential
for genetic discrimination in both the employment and insurance.The integration of new genetic
technologies, for example:- genetic testing, in the practice of
clinical medicine.Ethical issues surrounding
both the design and the conduct of genetic research within people,
including mainly the process of informed consent.The education of
healthcare professionals, students, policy makers, and also the public
about genetics and the complex issues which result from genomic research. 5
Human genome data base
Genome Database is a public repository of the data on human genes, STSs,
clones, polymorphisms and also maps. GDBs are found to be cross-linked to each
other. The Mapping data found to be from the large genome centers is added to the
GDB. The major functionality extensions in the last year includes: – ongoing
computation of the integrated of human “Comprehensive Maps”, and the main use
of those maps seen to support positional queries also with the graphic displays.
These will be seen raning from keyword searches to a complex queries. These DGB
is going to be searched by a variety of methods 6
Human genome Internet. En.wikipedia.org.
2017 cited 12 December 2017. Available from: https://en.wikipedia.org/wiki/Human_genome
What is the Human Genome Project-Why Is It
Important To Society Internet. Serendip.brynmawr.edu. 2017 cited 12 December
2017. Available from: http://serendip.brynmawr.edu/biology/b103/f01/web1/ejelonu.html
National Human Genome Research Institute
(NHGRI). (2017). About NHGRI: A Brief History and Timeline. online Available
Accessed 15 Dec. 2017.
Reference G. What were some of the ethical,
legal, and social implications addressed by the Human Genome Project?
Internet. Genetics Home Reference. 2017 cited 12 December 2017. Available
2017 cited 12 December 2017. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC147203/