Snp and its role in diseases

1. Name: Irfan Ullah
And
Nasrumin Allah
Roll.no 81,17

2. Single nucleotide polymorphism
and its role in diseases

3. Single nucleotide polymorphism(SNP)
• Single nucleotide polymorphism is a variation in
single nucleotide that occurs at a specific position
in the genome.
• These are positions in a genome where some
individuals have one nucleotide(e.g G)and others
have a different nucleotide (e.g C).
• There are 10 to 30 million SNPs in human
genome.
• Most commonly, these variations are found in the
DNA between genes. They can act as biological
markers, helping scientists locate genes that are
associated with disease.

5. SNP importance
• How human develop diseases?
• Response to pathogens.
• Response to chemicals.
• Response to drugs.
• Response to vaccines.
• Realizing the concept of personalised
medicine.

6. It helps in comparing the DNA of normal and
infected person.

7. Methods of snp Genotyping
Hybridization based method.
i. Dynamic Allelic Specific hybridization.
ii. Molecular Beacons method.
iii. SNP Microarray
iv. Enzyme Based method
v. Restriction Fragment Length Polymorphism.
vi. Tetra Arm Primer PCR.
vii. FLAP Indonuclease method.

8. Methods of snp Genotyping
Other Methods
i. Taqman Assay.
ii. Sequence Iplex SNP Genotyping.
iii. Infinium Assay.

9. Human hapmap project
It started in oct 2002.
In collaboration of China,Japan,Nigeria,United
kingdom,United states and Canada.
• Haplotype is a set of SNPs present on the
same chromosome.
• It focus on only SNP occurs in atleast 1% of the
population.

10. Human hapmap project

11. Human hapmap project
• DNA from 4 different populations is analyzed for
SNP.
• The human haplptype is identified and detected
to analyze SNP which are responsible for disease.
• This project will help biomedical researchers find
genes.
• The goal of international hapmap project is to
compare the genetic sequences of different
individuals to identify chromosonal regions
where genetic variants are shared.

12. Human hapmap project
• Information provided in the first phase of the
HapMap, completed in 2005, has led to the
development of techniques facilitating the search
for genes associated with common diseases --
such as schizophrenia and heart disease -- and
the identification of more than 50 such disease-
associated genes.
• Investigators from six countries have completed
the second phase of the International HapMap
Project, an effort to identify and catalog genetic
similarities and differences among populations
around the world.

13. Human hapmap project
• Using data and methods based on the
HapMap, MGH researchers have published
new genetic contributors to conditions such as
type 2 diabetes, Crohn's disease, elevated
blood cholesterol, rheumatoid arthritis,
multiple sclerosis, and prostate cancer.

14. Complex diseases
• Eczema is a general term referring to a group of
problematic skin conditions, most often including
symptoms such as itching, dryness, redness, and
blistering.
• Atopic eczema (an allergic disease) has been
reported to be associated with many SNPs,
including some in the CARD11 gene.
• There are 25 SNPs in atopic eczema.
• In non atopic eczema there are 2 SNPs in IL31
gene
• We can see all SNPs using SNPedia.

15. Complex diseases
• Lung cancer:-In two recent (2008) studies,
together comprising over 6,000 lung
cancer patients of European ancestry,
the rs1051730(T) allele was very significantly
associated with increased risk. Having one copy
(i.e. being a rs1051730(C;T) genotype) increased
risk for lung cancer about 1.3x, and having two
copies (rs1051730(T;T) individuals) represented
1.8x increased risk. Up to 14% of lung
cancer incidence may be attributable to this
allele.

16. Thank you