Scribd
Upload
64 views3 pages

Expressed Sequence Tags (Ests)

The human genome project aimed to identify all the genes in human DNA, determine the sequence of the 3 billion base pairs that make up human DNA, and store this information in databases. It also sought to improve data analysis tools, transfer related technologies, and address ethical issues. DNA was isolated from cells, fragmented, cloned, sequenced using automated machines, and aligned using computer programs to map the genome across chromosomes. The project revealed that the human genome contains around 30,000 genes across 3.1 billion base pairs, with functions unknown for over half of genes.

Uploaded by

shreyavjha2020
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
64 views3 pages

Expressed Sequence Tags (Ests)

The human genome project aimed to identify all the genes in human DNA, determine the sequence of the 3 billion base pairs that make up human DNA, and store this information in databases. It also sought to improve data analysis tools, transfer related technologies, and address ethical issues. DNA was isolated from cells, fragmented, cloned, sequenced using automated machines, and aligned using computer programs to map the genome across chromosomes. The project revealed that the human genome contains around 30,000 genes across 3.1 billion base pairs, with functions unknown for over half of genes.

Uploaded by

shreyavjha2020
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
You are on page 1/ 3

Human genome project

o The scientific project which deal with the study of base


sequences of DNA molecules of complete set of chromosomes
is called human genome project.
o HGP was closely associated with the rapid development of a
new area in biology called as
o Goals of Human Genome Project

o Identify all the approximately 20,000-25,000 genes in human


DNA.
o Determine the sequences of the 3 billion chemical base pairs
that make up human DNA.
o Store this information in databases;

o Improve tools for data analysis;

o Transfer related technologies to other sectors, such as


industries;
o Address the ethical, legal, and social issues (ELSI) that may
arise from the project.
Methodologies
o To identifying all the genes that expressed as RNA referred to
as Expressed Sequence Tags (ESTs).
o Simply sequencing the whole set of genome that contained all
the coding and non-coding sequence, and later assigning
different regions in the sequence with functions is called
as Sequence Annotation.
o The total DNA from a cell is isolated and converted into random
fragments of relatively smaller sizes and cloned in suitable host
using specialised vectors.
o The cloning resulted into amplification of each piece of DNA
fragment.
o The commonly used vectors are BAC (bacterial artificial
chromosomes), and YAC (yeast artificial chromosomes).
o The fragments were sequenced using automated DNA
sequencers.
o Specialized computer based programmes were developed for
the alignment of the sequences.
o The sequences were subsequently annotated and were
assigned to each chromosome.
o The sequence of chromosome 1 was completed only in May
2006.

Automated DNA sequencer


Salient Features of Human Genome
o The human genome contains 3164.7 million nucleotide bases.

o The average gene consists of 3000 bases with the largest known
human gene being dystrophin at 2.4 million bases.

The largest known human gene- dystrophin


o The total number of genes is estimated at 30,000.
o 9 per cent nucleotide bases are exactly the same in all people.
o The functions are unknown for over 50 per cent of discovered
genes.
o Less than 2 per cent of the genome codes for proteins.
o Repeated sequences make up very large portion of the human
genome.
o Repetitive sequences are stretches of DNA sequences that are
repeated many times.
o Chromosome 1 has most genes (2968), and the Y has the
fewest (231).
o Scientists have identified about 1.4 million locations where single
base DNA differences (SNPs – single nucleotide polymorphism)
occur in humans.

Single nucleotide polymorphism (self-drawn )


Applications of HGP
o All the genes in a genome can be studied together.
o Helps to understand how tens of thousands of genes and
proteins work together in interconnected networks.
o Helps to diagnose and treat genetic diseases.

You might also like