This document discusses single nucleotide polymorphisms (SNPs). It defines SNPs as single base changes in DNA sequences that occur in at least 0.1% of a population. SNPs are usually the result of errors in DNA replication or damage. They can be found in both coding and non-coding regions, and in coding regions they can alter protein structure. Applications of SNP analysis include gene discovery, disease association studies, and drug development. The document also describes several methods for SNP detection and identification, including PCR-based and non gel-based genotyping techniques as well as direct DNA sequencing.

1. SNP
ANALYSIS
BY RANA WAJAHAT ALI

2. SNP
 SNP analysis
 polymorphism means many forms
 SNP:is commonly biallelic
 SNP is usually pronounced by snips
 Definition
 It is defined as a single base change in DNA
sequence that occours in significant proportion of
0.1 %

3. DIAGRAME

4. HOW SNP RESULTS
 Snips are usully the result of error in replication
and damage of DNA
 For a variation to be be considered a SNP it must
occour in 1% of a population

5. APLICATIONS OF SNP
 Gene discovery and maping
 Response pridictions
 Homogeneity testing
 Gene function identification
 Association studies

6. >
 Diogonostic
 Drug discovery and development
 Recombination
 It tells us about genetic variations among species
 demographic events

7. DIAGRAME

8. FACTS OF SNP
 Genome of all humans are 99.9% same
 just 0.1% genes are different these locations are
called snips
 90% variations in humans are due to snip these
could be harmless are harmful
 harmless for example phenotype
 harmfull for example any disease like cancer
diabetese etc.

9. >
 SNP are found in coding and (mostly)non coding
region
 frequency variability is very high i.e 1 of 1000 to1
of 100 to 300 bases
 in coding region they alter they alter the str of
protein
 snips close to a particular gene acts as a marker for
that gene

10. SNP MAPPING
 Sequence genome of large no of people
 comparison of base sequence to discover SNP
 generation of single map of human genome that
could contain possible snips of human population

11. DIAGRAME

12. TYPES OF SNIP

13. DATABASES OF SNP

14. SNP ANALYSIS
 analytical methods to discover novel SNPs and
detect known snips is called snip analysis
 Detection Of Known SNPS
 a Gel Based Genotyping Method
 1 PCR with restriction enzymes coupled analysis
 2 Amplification Refractory Mutation System
 Oligonucleotide Ligation Assay
> Minisequencing

15. DIAGRAME

16. DIAGRAME

17.  Detection of known SNP
 b)Non Gel Based Genotyping technique
 1)-hyberdization using fluorescence resonance
energy transfer detection
 (TagMan genotyping ,Molecular beacons)
 2)High density chip array

19. SNP IDENTIFICATION MOLECULAR BEACONS

20. IDENTIFICATION OF NEW SNIPS
 It involves two steps
 1)confirmation-based mutation scanning
 2)direct DNA sequencing

21. CONFORMATION BASED MUTATION SCANNING

22. SEQUENCE BASED SNP IDENTIFICATION