HUMAN GENOME PROJECT

DNA

In the preceding sections you have learnt that it is the sequence of bases in ____ that determines the genetic information of a given organism.

Genetic

In other words, ____ make-up of an organism or an individual lies in the DNA sequences.

Individuals

If two ____ differ, then their DNA sequences should also be different, at least at some places.

Human Genome

These assumptions led to the quest of finding out the complete DNA sequence of ____ ____.

Genetic engineering techniques

With the establishment of __________, it was possible to isolate and clone any piece of DNA.

DNA sequences

Availability of simple and fast techniques for determining __________ made the sequencing of the human genome project feasible.

Human Genome Project (HGP)

The ambitious project of sequencing the human genome was launched in the year 1990, known as the __________.

3 x 10^9 bp

The human genome is estimated to have approximately __________ base pairs.

US $ 3 per bp

The cost of sequencing required for the Human Genome Project was estimated to be __________.

Genes

Identify all the approximately 20,000-25,000 _____ in human DNA.

Base pairs

Determine the sequences of the 3 billion chemical _____ that make up human DNA.

Databases

Store this information in _____.

Analysis

Improve tools for data _____.

Technologies

Transfer related _____ to other sectors, such as industries.

ELSI

Address the ethical, legal, and social issues (_____) that may arise from the project.

Human Genome Project

The ____ was a 13-year project coordinated by the U.S. Department of Energy and the National Institute of Health.

Expressed Sequence Tags (ESTs)

One approach focused on identifying all the genes that are expressed as RNA, referred to as ____.

Sequence Annotation

The blind approach of 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, a term referred to as ____.

Wellcome Trust

During the early years of the HGP, the ____ became a major partner.

DNA Variations

Knowledge about the effects of ____ among individuals can lead to revolutionary new ways to diagnose, treat, and someday prevent the thousands of disorders that affect human beings.

Model organisms

Many non-human _____, such as bacteria, yeast, Caenorhabditis elegans, Drosophila, plants, etc., have also been sequenced.

Methodologies

The methods involved two major approaches. One approach focused on identifying all the genes that are expressed as RNA (referred to as Expressed Sequence Tags (ESTs). The other took the blind approach of 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 (a term referred to as Sequence _____).

Sequencing

For ____, the total DNA from a cell is isolated and converted into random fragments of relatively smaller sizes.

DNA

The total ____ from a cell is isolated and converted into random fragments of relatively smaller sizes.

Fragments

The total DNA from a cell is isolated and converted into random ____ of relatively smaller sizes.

Cloned

The cloning resulted in amplification of each piece of DNA fragment so that it subsequently could be sequenced with ease.

Vectors

The vectors were called as BAC (bacterial artificial chromosomes), and YAC (yeast artificial chromosomes) for cloning.

Sequenced

The fragments were ______ using automated DNA sequencers.

Method

Frederick Sanger developed a ______ for determination of amino acid sequences in proteins.

Overlapping

Sequences were arranged based on some ______ regions present in them.

Fragments

Generation of overlapping ______ for sequencing was required.

Alignment

Humanly not possible to align these sequences, so specialised computer-based programs were ______.

Annotated

The sequences were subsequently ______ and assigned to each chromosome.

Chromosome 1

The sequence of ______ was completed in May 2006, the last of the 24 human chromosomes to be sequenced.

genetic and physical maps on the genome

Another challenging task was assigning the _______.

polymorphism

This was generated using information on _______ of restriction endonuclease recognition sites.

microsatellites

...and some repetitive DNA sequences known as _______.

Human Genome

Some of the salient observations drawn from the ______ project are as follows.

3164.7 million bp

The human genome contains ______.

Gene

The average ______ consists of 3000 bases, but sizes vary greatly.

Dystrophin

The largest known human gene being ______ at 2.4 million bases.

Genes

The total number of ______ is estimated at 30,000.

Nucleotide Bases

Almost all (99.9 per cent) ______ are exactly the same in all people.

Over 50 per cent of the discovered genes have ____ functions.

unknown

Less than 2 per cent of the genome codes for ____.

proteins

Repeated sequences make up a very large portion of the human ____.

genome

________________are stretches of DNA sequences that are repeated many times, sometimes hundreds to thousands of times

Repetitive sequences

Chromosome 1 has the most genes (2968), and the Y has the ____ (231).

fewest

Scientists have identified about 1.4 million locations where single-base DNA differences (SNPs – single nucleotide polymorphism, pronounced as ‘snips’) occur in humans

SNPs

Sequencing

For __________, the total DNA from a cell is isolated and converted into random fragments of relatively smaller sizes and cloned in suitable host using specialized vectors.

Cloning

The fragments were sequenced using automated DNA sequencers that worked on the principle of a method developed by Frederick Sanger. (Remember, Sanger is also credited for developing method for determination of amino acid sequences in proteins).

Human Genome Project (HGP)

With the establishment of genetic engineering techniques, a very ambitious project of sequencing the human genome was launched in the year 1990.

DNA Sequences

Deriving meaningful knowledge from the __________ will define research through the coming decades leading to our understanding of biological systems.

Sequencing

For __________, the total DNA from a cell is isolated and converted into random fragments of relatively smaller sizes and cloned in suitable host using specialized vectors.

Cloning

The fragments were sequenced using automated DNA sequencers that worked on the principle of a method developed by Frederick Sanger. (Remember, Sanger is also credited for developing method for determination of amino acid sequences in proteins).

Human Genome Project (HGP)

With the establishment of genetic engineering techniques, a very ambitious project of sequencing the human genome was launched in the year 1990.

Biological Research

One of the greatest impacts of having the HG sequence may well be enabling a radically new approach to __________.

High-throughput technologies

With whole-genome sequences and new __________, we can approach questions systematically and on a much broader scale.