Renuka .M.

Shastri
Sem:IX
The international HapMap project

• Launched October 29,2002.

• Major initiative to map human genetic variation based on haplotype
patterns.
• Characterize sequence variants, their frequencies, and correlation
between them.
• Serve as a key source of finding gene that affect health, disease,
and drug responses.
• The project was collaboration among researchers at academic,non
profit biomedical research groups and private companies in:
1. Japan
2. The United kingdom
3. Canada
4. The united states
What is HapMap?

• HapMap stand for haplotype map.

• Major goal of the project was to develop haplotype map of the

human genome.
• The DNA sequence of any two individuals is 99.5% identical.
• The variation however may greatly affect an individual’s disease risk.
What is Haplotype?

• Haplotype is a cluster of SNPs on a chromosome that are inherited

as a block.
• The HapMap targets at locating haplotypes in the genome and see
how common they are in different population in the world.
Single Nucleotide Polymorphism
(SNPs)
• Sites in DNA sequence where individuals differ at a single DNA base
are called Single Nucleotide Polymorphism (SNPs).
• Sets of nearby SNPs on the same chromosome are inherited in
blocks.
• This pattern of SNPs on a block is a haplotype.
• Blocks may contain a large number of SNPs, but a few SNPs are
enough to uniquely identify haplotypes in a block.
Single Nucleotide Polymorphism
(SNPs).
• Human genome contain roughly 10 million SNPs.
• Study of each SNPs is cumbersome and time consuming, hence in
order to accelerate the search for genetic cause of human disease
can be accomplished by haplotype mapping.
• Hence we can say that HapMap is a catalogue of common
genetic variants called SNP.
Why to study SNPs?
• Tag SNPs:
• There are specific SNPs that can identify the haplotypes are called
tag SNPs.
• Using just the tag SNPs researchers are able to find chromosome
regions that have different haplotype distributions in the two groups
of people, those with disease response and those without.
• The HapMap is valuable by reducing the number of SNPs required to
examine the entire genome for association with a phenotype from
10 million SNPs that exists to roughly 500,000 tag SNPs.
Common variants can lead to
common disease.
• If certain variants are more often present in individual as compares
to normal individual they are likely to be risk factors.
• This could give some predictive value so that can be used for
treatment or diagnosis or many other factors.
Steps for HapMap construction

• 3 steps of HapMap construction are:

1. SNPs are identified in the DNA sample from multiple individual.
2. Adjacent SNPs are inherited together are compiled into
haplotypes.
3. Tag SNPs are identified within the haplotypes that uniquely
describes those haplotypes.
• The DNA samples from populations with ancestry from the parts of
Asia, Europe, Africa.
Population sampled

• Yoruba people in Ibadan, Nigeria - 30 both-parent-and-adult-child

trios

• Japanese in Tokyo - 45 unrelated individuals

• Han Chinese in Beijing - 45 unrelated individuals

• The U.S. Utah residents of northern and western European ancestry -

30 trios , Residents with ancestry from Northern and Western Europe
How HapMap could benefit
human health?
• Provide an extensive resource that researchers can use to discover
the genetic variants involved in disease and individual responses to
therapeutic agents.
• Learn much more about the origins of illnesses and about ways to
prevent, diagnose and treat.
• Customizable treatment, new therapies.
Thank you