PHARMACOGENOMICS
HUMAN GENOME PROJECT

INTRODUCTION
HUMAN GENOME PROJECT:
The Human Genome Project (HGP) was an international scientific
research project with the goal of determining the base pairs that make
up human DNA, and of identifying, mapping and sequencing all of the
genes of the human genome from both a physical and a functional
standpoint. It started in 1990 and was completed in 2003.It remains the
world's largest collaborative biological project. Planning for the project
started after it was adopted in 1984 by the US government and it
officially launched in 1990. It was declared complete on April 14, 2003,
and included about 92% of the genome. Level "complete genome" was
achieved in May 2021, with a remaining only 0.3% bases covered by
potential issue. The final gapless assembly was finished in January
2022.
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DYSTROPHIN GENE:
The dystrophin gene is the largest known human gene, containing 79 exons and
spanning > 2,200 kb, roughly 0.1% of the genome (96). The most common
mutation responsible for DMD and BMD is a deletion spanning one or multiple
exons. Such deletions account for 60–70% of all DMD cases and 80~85% BMD
cases (58, 147). Dystrophin is a rod-shaped cytoplasmic protein, and a vital part
of a protein complex that connects the cytoskeleton of a muscle fiber to the
surrounding extracellular matrix through the cell membrane. This complex is
variously known as the cos tamere or the dystrophin-associated protein
complex.

PROCESS OF GETTING WHOLE GENOME SEQUENCE
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• step-1:go the NCBI website by searching in the google.

• Step-2:search for the given genome name in the search bar for example
Dystrophin
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• Step-3:
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• Step-4:
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• Step-5:
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RESULT:
In this way we get the genome
sequence and we analyse that genome
sequence using some bioinformatic
tools
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REFERENCES:
“https://www.ncbi.nlm.nih.gov/
protein/AAC38002.1,
https://www.genome.gov/hu
man-genome-project
”
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