Human genome project was a mega project that aimed to sequence every base in human genome
This project has yielded much new information
Many new areas and avenues have opened up as a consequence of the project
Project began in 1990, 15-year effort 18 countries participate in the worldwide effort
September 1999 public announcement
A rough draft by spring 2000
The draft
About 90% of the human genome
A complete, high-quality DNA sequence - by 2003
Human Genome Project assembles 12,000 bases every minute
15 billion raw base pairs were sequenced to reach the two billion
Each area of a chromosome at least four to five times to insure that the data deposited is accurate
The “depth of coverage,”
Identify all the approximately 20,000-25,000 genes in human DNA
Determine the sequences of the 3 billion chemical base pairs that make up human DNA
Store this information in databases
Improve tools for data analysis
Transfer related technologies to other sectors, such as industries
Address the ethical, legal, and social issues (ELSI) that may arise from the project
The human genome contains 3164.7 million nucleotide bases
The average gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases
The total number of genes is estimated at 30,000-much lower than previous estimates of 80,000 to 1,40,000 genes Almost all (99.9 per cent) nucleotide bases are exactly the same in all people
The functions are unknown for over 50 per cent of discovered genes
Less than 2 per cent of the genome codes for proteins
Repeated sequences make up very large portion of the human genome
Repetitive sequences are stretches of DNA sequences that are repeated many times, sometimes hundred to thousand times. They are thought to have no direct coding functions, but they shed light on chromosome structure, dynamics and evolution
Chromosome 1 has most genes (2968), and the Y has the fewest (231)
Scientists have identified about 1.4 million locations where singlebase DNA differences (SNPs-single nucleotide polymorphism, pronounced as ‘snips") occur in humans. This information promises to revolutionise the processes of finding chromosomal locations for disease-associated sequences and tracing human history
Medical Benefits
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
Microbial Genome Research
New energy sources (biofuels)
Environmental monitoring to detect pollutants
Protection from biological and chemical warfare
Safe, efficient toxic waste cleanup
DNA Forensics
DNA Forensics - cont.
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
New enviornmental cleanup uses for plants like tobacco
Evolution and human migration
Risk assessment
DNA fingerprinting is a method used to identify an individual from a sample of DNA by looking at unique patterns in their DNA
It works on the principle of polymorphism in DNA sequences
Almost every cell in our body contains our DNA
On average, about 99.9 per cent of the DNA between two humans is the same
The remaining percentage is what makes us unique (unless you are an identical twin!)
Although this might sound like a small amount, it means that there are around three million base pairs that are different between two people. These differences can be compared and used to help distinguish you from someone else
Minisatellites are short sequences (10-60 base pairs long) of repetitive DNA that show greater variation from one person to the next than other parts of the genome. This variation is exhibited in the number of repeated units or ‘stutters’ in the minisatellite sequence.
The first minisatellite was discovered in 1980
DNA fingerprinting was invented in 1984 by Professor Sir Alec Jeffreys after he realised you could detect variations in human DNA, in the form of these minisatellites
DNA fingerprinting is a technique that simultaneously detects lots of minisatellites in the genome to produce a pattern unique to an individual. This is a DNA fingerprint.
The probability of having two people with the same DNA fingerprint that are not identical twins is very small
Just like your actual fingerprint, your DNA fingerprint is something you are born with, it is unique to you
Isolation of DNA
Digestion of DNA by restriction endonucleases
Separation of DNA fragments by electrophoresis
Transferring (blotting) of separated DNA fragments to synthetic membranes, such as nitrocellulose or nylon
Hybridization using labelled VNTR probe, and
Detection of hybridized DNA fragments by autoradiography
Blood
Semen
Vaginal fluids
Hair roots
Skin
Skeletal
Remains or elsewhere
RFLP-Restriction Fragments Length Polymorphism
VNTR-Variable Number Tandem Repeat
STR-Short Tandem Repeats
SNP-Single Nucleotide Polymorphism
RAPD-Random Amplified Polymorphic DNA
Forensic Science
Paternity
Genetic Biodiversity
Evolutionary Biology
Expand HGP
How many base pairs are there in human?
What is DNA fingerprinting?
What is the principle of DNA fingerprinting?
Mention some sources from where DNA can be isolated for DNA fingerprinting
Prokaryotes - Operon- Inducible, Repressible
Inducible
Genes are normally Switched OFF
Genes can be indeed to express itself
Example- lac operon
Repressible
Genes are normally Switched On
Genes are sepressed to stop gene expression
Example- trp operon
Why UV Rays cause the Mutation?
Differentiate between Repetitive DNA and Satellite DNA