Snp and its role in diseases

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.

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

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

6. Methods of snp Genotyping Hybridization based method. Dynamic Allelic Specific hybridization. Molecular Beacons method. SNP Microarray Enzyme Based method Restriction Fragment Length Polymorphism. Tetra Arm Primer PCR. FLAP Indonuclease method.

7. Methods of snp Genotyping Other Methods Taqman Assay. Sequence Iplex SNP Genotyping. Infinium Assay.

8. 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.

9. Human hapmap project

10. 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.

11. 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.

12. 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.

13. 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.

14. 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.

15. Thank you