The Human Genome Project began in 1990 as a joint effort between the Department of Energy and National Institutes of Health to map the entire human genome. By 2001, both the publicly funded Human Genome Project and private company Celera Genomics had completed mapping the genome, which contains approximately 26,000 genes. DNA sequencing techniques like Sanger sequencing were used to determine the precise order of nucleotides in DNA and advance biological and medical research. The genome provides instructions to build a human through genes and proteins, with implications for medicine, biotechnology, and life sciences.
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HGP, the human genome project
1.
2.
3. HISTORY OF HUMAN GENOME PROJECT
The project had its ideological origins in the mid-1980s,
but its intellectual roots stretch back further
In the mid-1970s, Frederick
Sanger developed techniques to
sequence DNA
he received his second Nobel
Prize in chemistry in 1980.
4. The Human Genome Project, The First
Five Years, FY 1991-1995."
The HGP began as a joint effort
between the Department of Energy
(DOE) and the United States
National Institutes of Health (NIH).
This initial research plan set out specific goals for the
first five years of what was then projected to be a 15-year
research effort.
5. The Human Genome Project (HGP) is an international
research effort to determine the DNA sequence of the
entire human genome
The work of the Human Genome Project has allowed
researchers to begin to understand the blueprint for
building a person. As researchers learn more about the
functions of genes and proteins, this knowledge will
have a major impact in the fields of medicine,
biotechnology, and the life science
6.
7. Two groups tied in first sequencing a
human genome
The Human Genome Project
Celera genome sequencing project
The Human Genome Project
Funded by the US
Department of Energy, and
Celera Genomics, a private
company. The Human
Genome Project took 10
years and cost $3 billion USD
(US Dollars),
Celera genome
sequencing project took
two years and cost just $300
million USD. Both projects
concluded in 2000 or 2001,
depending on what is
considered a "complete"
human genome sequencing.
8.
9. DNA sequencing is the process of determining the precise
order of nucleotides within a DNA molecule.
The advent of rapid DNA
sequencing methods has
greatly accelerated
biological and medical
research and discovery.
It includes any method or technology
that is used to determine the order of
the four bases in a strand of DNA
which are
Adenine
Guanine
Cytosine,
Thymin
DNA SEQUENCING
11. Maxam-Gilbert sequencing is performed by chain
breakage at specific nucleotides.
DMS
G
G
G
G
FA
G
A
G
G
A
G
A
A
H
C
T
T
C
T
C
C
T
H+S
C
C
C
C
MAXAM-GILBERT
SEQUENCING
12. Sequencing gels are read from bottom to top (5′ to 3′).
G G+A T+C C
3′
A
A
G
C
A
A
C
G
T
G
C
A
G
5′
Longer fragments
Shortest fragments
G
A
13. CHAIN TERMINATION (SANGER)
SEQUENCING
In this method, the DNA is used as a template to generate a
set of fragments that differ in length from each other by a
single base.
The fragments are then separated by size, and the bases at
the end are identified, recreating the original sequence of the
DNA.
14. Chain terminates
at ddG
CHAIN TERMINATION (SANGER)
SEQUENCING
The 3′-OH group necessary for formation
of the phosphodiester bond is missing in
ddNTPs.
15. Template area to be sequenced
-3′ OH
TCGACGGGC…
5′OP-
Primer
Template
A sequencing reaction mix includes labeled
primer and template.
Dideoxynucleotides are added separately to each
of the four tubes.
16. ddATP + ddA
four dNTPs dAdGdCdTdGdCdCdCdG
ddCTP + dAdGddC
four dNTPs dAdGdCdTdGddC
dAdGdCdTdGdCddC
dAdGdCdTdGdCdCddC
ddGTP + dAddG
four dNTPs dAdGdCdTddG
dAdGdCdTdGdCdCdCddG
ddTTP + dAdGdCddT
four dNTPs dAdGdCdTdGdCdCdCdG
A
C
G
T
17. The collection of fragments is a
sequencing ladder.
The resulting terminated chains are
resolved by electrophoresis.
Fragments from each of the four tubes
are placed in four separate gel lanes.
18. Sequencing gels are read from bottom to top (5′ to 3′).
G A T C
3′
G
G
T
A
A
A
T
C
A
T
G
5′
Longer fragments
Shorter fragments
ddG
ddG
19. GOALS OF DNA SEQUENCING
Large insert clones
YACs (Yeast Artificial Chromosomes
Useful for mapping ~1mb inserts
Unstable during construction and propagation
Not useful for sequencing
BACs (Bacterial Artificial Chromosomes)
~150kb insert
Extremely stable and easy to propagate
Gold standard for sequencing targets and
chromosome-scale maps
Cosmids
~50kb insert
Extremely stable and easy to propagate
Useful for sequencing but too small for
chromosome
20.
21. Messenger RNAs (mRNA)
describes cytoplasmic
product
Pre-mRNA (part of hnRNA) in
nucleus is processed and
exported
Describe by gene/protein,
including isoform
spliced
or NCBI sequence (NM,
natural; XM, in silico)
New methods for describing
mRNAs (Sammeth 2008)
22. The genes in DNA encode protein molecules, which are the
"workhorses" of the cell, carrying out all the functions
necessary for life. For example, enzymes, including those that
metabolize nutrients and synthesize new cellular constituents,
as well as DNA polymerases and other enzymes that make
copies of DNA during cell division, are all proteins.
In the simplest sense,
expressing a gene means manufacturing its corresponding protein,
and this multilayered
process has two major steps.
23. In the first step, the information in DNA is transferred to a
messenger RNA (mRNA) molecule by
way of a process called transcription. During transcription,
the DNA of a gene serves as a template for complementarybase-pairing,
and an
enzyme called RNA polymerase II catalyzes the formation of a pre-mRNA
molecule, which is then processed to form mature mRNA.
. The resulting mRNA is a single-stranded copy of the gene, which next
must be translated into a protein molecule.
24. During translation, which is the second major step in gene
expression,
the mRNA is "read" according to the genetic code, which
relates
the DNA sequence to the amino acidsequence in proteins.
Each group of three base pairs in mRNA constitutes
acodon, and each
codon specifies a particular amino acid (hence,
it is a triplet code). The mRNA sequence is thus used as a
template
to assemble—in order—the chain of amino acids that form
a protein.
25. Human genome maps
genetic map of the human genome and determine the
entire nucleotide
sequence of humandeoxyribonucleic acid (DNA). A
nucleotide is the
basic unit of nucleic acid, which is
found in the 23 pairs ofchromosomes in the human body.
According to
the Human Genome Project, there are between 26,000 and
40,000 genes
in the human body. Each of these genes is composed of a
unique
sequence of pairs, each with four bases, called base pairs.
26. A Whole Genome Map is a high-resolution, ordered, whole genome
map generated from single DNA molecules
extracted from bacteria, yeast, or other fungi. Whole Genome Mapping is
a novel technology with unique capabilities in the field
of microbiology, with specific applications in the areas of Comparative
Genomics, Strain Typing, and Whole Genome Sequence Assembly.
Whole Genome Maps are generated de novo, independent of sequence
information, require no amplification or PCR steps, and provide
a comprehensive view of whole genome architecture. A Whole Genome Map
is displayed in the MapCode pattern where the vertical
lines indicate the locations of restriction sites, and the distance
between the lines represent the restriction fragment size.
27. to investigate microbial structure, function, diversity and
genetics— without the need for amplification, PCR, cloning,
paired-end libraries, pure isolates
, or genomic specific reagents. Using OpGen’s unique de
novo Whole
Genome Mapping Technology, the Argus Whole Genome
Mapping System,
BGI delivers high resolution, ordered whole genome
restriction maps
from single microbial DNA molecules.
28. • there are two mathods of maping
•Genetic linkage map
•Physical map
Low resolution map
Use moliculer biological te chniques to examin the dna directly
And position of sequence ,features and including the genes
Separate by the electrophrosis
29. In the gene linkage Map gentic techniques includes
Like crossing breed,or some natural prosses or in the csase of humans
the experimental of family history or such traits that’s coming from past
Gene map is the anatomy of human genom its easy to understand the
function of human genom
Help in analysing the heterogenecity and segregationof human genetic
And also dividing the chromosoms in the smaller fregments
Show the location of gene
32. identify potential suspects at crime scenes
exonerate wrongly accused persons
identify crime and catastrophe victims
establish paternity and other family relations
identify endangered and protected species as an aid to wildlife officials
(prosecution of poachers)
33. assess health damage and risks caused by radiation exposure, including
low-dose exposures
assess health damage and risks caused by exposure to mutagenic chemicals
and cancer-causing toxins
reduce the likelihood of heritable mutations
34. fairness in the use of genetic information
privacy and confidentiality
psychological impact and stigmatization
genetic testing
reproductive issues
education, standards, and quality control
Commercialization
conceptual and philosophical implications