The international HapMap project was launched in 2002 as a collaboration between researchers in Japan, the UK, Canada, and the US to map human genetic variation and characterize single nucleotide polymorphisms (SNPs) in different populations. The goal was to develop a haplotype map of the human genome by identifying common genetic variants called SNPs and determining which SNPs are inherited together in blocks called haplotypes. Studying SNPs and haplotypes can help identify regions of the genome associated with disease and individual responses to treatment. The HapMap provides a valuable resource for researchers to discover genetic factors involved in health and disease.
Original Description:
the presentation is about the haplotype map project
The international HapMap project was launched in 2002 as a collaboration between researchers in Japan, the UK, Canada, and the US to map human genetic variation and characterize single nucleotide polymorphisms (SNPs) in different populations. The goal was to develop a haplotype map of the human genome by identifying common genetic variants called SNPs and determining which SNPs are inherited together in blocks called haplotypes. Studying SNPs and haplotypes can help identify regions of the genome associated with disease and individual responses to treatment. The HapMap provides a valuable resource for researchers to discover genetic factors involved in health and disease.
The international HapMap project was launched in 2002 as a collaboration between researchers in Japan, the UK, Canada, and the US to map human genetic variation and characterize single nucleotide polymorphisms (SNPs) in different populations. The goal was to develop a haplotype map of the human genome by identifying common genetic variants called SNPs and determining which SNPs are inherited together in blocks called haplotypes. Studying SNPs and haplotypes can help identify regions of the genome associated with disease and individual responses to treatment. The HapMap provides a valuable resource for researchers to discover genetic factors involved in health and disease.
• 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