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HUMAN GENOME PROJECT
✓ Genome: The entire DNA in the haploid set of chromosome of an organism.
✓ In Human genome, DNA is packed in 23 different chromosomes.
✓ Human Genome Project (1990-2003) is the effort in identifying the sequence of
nucleotides and mapping of all the genes in human genome.
✓ Human genome contains about 3x109 bp.
HUMAN GENOME PROJECT
✓ Identify all the estimated 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.
HUMAN GENOME PROJECT
● HGP was closely associated with
Bioinformatics.
● Bioinformatics: Application of
computer technology and
information science to organize,
interpret and predict biological
structure and functions.
● Usually applies in analyzing DNA
sequence data.
HUMAN GENOME PROJECT
Methodologies of HGP
2 major approaches.

Expressed Sequence Tags (ESTs) Sequence annotation

✓ Identifying all genes that ✓ Sequencing the whole genome

are expressed as RNA. which contains all the coding and

non-coding sequence, and later
assigning different regions in the
sequence with functions.
SALIENT FEATURES OF HUMAN GENOME
✓ Human genome contains 3164.7 million nucleotide bases.
✓ Average gene consists of 3000 bases, but sizes vary greatly.
✓ Largest known human gene (dystrophin on X-chromosome) contains 2.4
million bases.
✓ Total number of genes= 30,000.
✓ 99.9% nucleotide bases are identical in all people.
✓ 0.1% makes each of us unique.
✓ The functions are unknown for over 50% of the discovered genes.
SALIENT FEATURES OF HUMAN GENOME
✓ Chromosome I has most genes (2968) and Y has fewest (231).
✓ Less than 2% of the genome codes for proteins.
✓ Repeated sequences make up very large portion of human genome.
✓ Repetitive sequences are stretches of DNA sequences that are repeated many
times. They have no direct coding functions, but they shed light on
chromosome structure, dynamics and evolution.
✓ About 1.4 million locations where single-base DNA differences (SNPs- Single
nucleotide polymorphism or ‘snips’) occur in humans.