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  • By Syed Shujaat Ali Syedzaidi85@hotmail - Co.uk Syedshujaat@comsats - Edu.pk

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    The document discusses single nucleotide polymorphisms (SNPs), which are variations in DNA sequences where a single nucleotide differs between members of a species. SNPs are the most common type of genetic mutation and occur approximately every 1000 nucleotides. They can be coding or non-coding, and synonymous or non-synonymous. While the majority of SNPs lie outside of genes and do not directly cause disease, some have been associated with increased risk of diseases like diabetes, cancer, and Alzheimer's. Large databases have been created to map SNPs, with over 15 million currently known in the human genome. Analysis of SNPs can help researchers locate genes associated with diseases.

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    Lecture+5+SNPs (1)

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    The document discusses single nucleotide polymorphisms (SNPs), which are variations in DNA sequences where a single nucleotide differs between members of a species. SNPs are the most common type of genetic mutation and occur approximately every 1000 nucleotides. They can be coding or non-coding, and synonymous or non-synonymous. While the majority of SNPs lie outside of genes and do not directly cause disease, some have been associated with increased risk of diseases like diabetes, cancer, and Alzheimer's. Large databases have been created to map SNPs, with over 15 million currently known in the human genome. Analysis of SNPs can help researchers locate genes associated with diseases.

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    Attribution Non-Commercial (BY-NC)
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    Download as pptx, pdf, or txt
    12 views24 pages

    By Syed Shujaat Ali Syedzaidi85@hotmail - Co.uk Syedshujaat@comsats - Edu.pk

    Uploaded by

    farrukhbhutta
    The document discusses single nucleotide polymorphisms (SNPs), which are variations in DNA sequences where a single nucleotide differs between members of a species. SNPs are the most common type of genetic mutation and occur approximately every 1000 nucleotides. They can be coding or non-coding, and synonymous or non-synonymous. While the majority of SNPs lie outside of genes and do not directly cause disease, some have been associated with increased risk of diseases like diabetes, cancer, and Alzheimer's. Large databases have been created to map SNPs, with over 15 million currently known in the human genome. Analysis of SNPs can help researchers locate genes associated with diseases.

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    Attribution Non-Commercial (BY-NC)
    Download as PPTX, PDF, TXT or read online from Scribd
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    of 24

    By Syed Shujaat Ali syedzaidi85@hotmail.co.uk syedshujaat@comsats.edu.

    pk

    Single Nucleotide Polymorphism.

    Variation of a single character.

    For a SNP to be considered as a variation?

    SNPs are variations in the sequence of DNA, that

    occurs when any of the four nucleotides get replaced by another. Most common type of mutation. Occurrence. 3 Million SNPs.

    Coding SNPs.
    Non-Coding SNPs. Synonymous SNPs.

    Non-Synonymous SNPs / Replacement Polymorphism.

    - Functional & Non-Functional SNPs.

    Human Genome Similarity.

    Impact on Human Genome.


    Stability of SNPs. Scientists thought.

    Human response to diseases.

    Direct or Indirect impact of SNPs on Diseases.

    E.g. Diabetes type 1, Diabetes type 2, Cancer,

    Alzheimers Disease, Parkinson Disease and many other traits that vary between individuals.

    ApoE Gene.

    ApoE (Apolopoprotein).
    ApoE2, ApoE3 & ApoE4. Inheritance of any one ApoE.

    Probability with ApoE2 and ApoE4.

    Established in 1999 by pharmaceutical companies &

    Welcome Trust, UK, lead by Arthur. L. Holden. GOAL Find and Map 300,000 SNPs. To create a widely acceptable, authentic, high-quality, public database, using SNPs as markers, evenly distributed throughout the human genome.

    By the end of the project many more SNPs were

    discovered. DNA samples collection. Different Ethnic / racial groups. Volunteer contributions.

    TSC can be accessed from: dbSNP database of NCBI. HGVbase (Human Genome Variation Database).

    Majority of SNPs lie outside gene.

    They do not cause disease directly.


    Environmental Factors. Life style Factors.

    Interaction among different genes.

    Most of SNPs serve as Biological Markers. Used in gene identification, disease location etc.

    Researcher 1. Collect Blood Samples (affected and unaffected individuals) Isolate DNA. Analyse DNA and SNP pattern. Researcher 2. Compare the obtained SNP patterns to the patterns of the unaffected individual. Such a comparison study is called Association Study.

    SNP response cannot be detected or predetermined. Response to drug.

    Personalized Medicines.

    15 million SNP sites in human genome.

    3.8 million SNPs common among 270 individuals.

    Latest Research 99.9 % human genome is same. 0.1 % dissimilarity. AND!

    Polyscan

    SNPsFinder
    ssahaSNP (Sequence Search and Alignment by

    Hashing Algorithm) GeneVar (Gene Expression Variation) AvadisNGS

    http://snpsfinder.lanl.gov/

    Download www.sanger.ac.uk

    Install
    Activate Input sequence

    Play with different functions of the software.

    PRACTICE, PRACTICE and

    PRACTICE.

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