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HUMAN GENOME PROJECT

MBB 508: Proteomics and Genomics (2+0)

Submitted by Mr. Ekatpure Sachin

Dept. of Plant Biotechnology

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INTRODUCTION

HUMAN GENOME PROJECT

U.S. govt. project coordinated by DOE and NIH

Started in 1990 18 countries participate in the worldwide

effort September 1999 public announcement A rough draft by spring 2000 About 90% of the human genome was in

draft A complete, high-quality DNA sequence - by

2003

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GOALS Obtain physical map of genome- Allows rough location of genetic

fragments

Develop sequencing technology- Increase throughput and reduce cost

Obtain human DNA sequence- Achieve high accuracy, make freely accessible

Analyze human sequence variation- Identify SNPs, develop theory

Create bioinformatics tools- Develop databases and analysis algorithms

Identify genes and coding regions- Develop efficient in-vitro or in-silico

methods

Sequence other model organisms- Bacteria, yeast, fruit fly, worm, mouse

Ethical, legal and social issues- Develop policies and public awareness

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TIMELINE OF THE HGP

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STEPS IN THE HGP

HGP was carried out in three stepsA. The generation of chromosome maps, B. Large scale DNA sequencing and C. Annotating the DNA sequence

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A. CHROMOSOME MAPS

Types of chromosome maps:1. Physical maps2. Genetic maps

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1. PHYSICAL MAPPING

It uses a variety of methods assign genes and DNA markers to particular

locations along a chromosome, so the actual distances between the genes

(measured in nucleotide base pairs) are known

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2. GENETIC MAPPING

The arrangement of genes based on the relationship of their linkage

DNA markers or probes can also be used in the construction of genetic Maps

if they detect sequence changes (polymorphism) among different individuals

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B. DNA SEQUENCING

1. cDNA Sequencing2. Systematic Mapping and DNA Sequencing of

Human Chromosomes3. Whole Genome Shotgun

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C. ANNOTATION OF THE GENOME DNA SEQUENCE

Annotation of genome sequence can includes:

Cataloguing the Genes Disease Gene Identification Human Genome Sequence Variation

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APPLICATIONS OF HUMAN GENOME PROJECT

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MEDICAL APPLICATIONS

Improved diagnosis of disease Earlier detection of predispositions to disease Rational drug design Gene therapy and control systems for drugs

pharmacogenomics “personal drugs” Organ replacement

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MICROBIAL GENOME RESEARCH

New energy sources (biofuels) Environmental monitoring to detect

pollutants Protection from biological and chemical

warfare Safe, efficient toxic waste cleanup

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DNA FORENSICS

Identify potential suspects at crime scenes Exonerate wrongly accused persons Establish paternity and other family relations Identify endangered and protected species as

an aid to wildlife official

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AGRICULTURE AND LIVESTOCK

Disease, insect and drought-resistant crops Healthier, more productive, disease-resistant

farm animals More nutritious produce Biopesticides Edible vaccines incorporated into food

products

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