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Comparing SNPs with CNVs

Comparing SNPs with CNVs. By Samuel Saldana. What are SNPs?. “SNP” Stands for single nucleotide polymorphism It is the most common type of genetic variation in people . SNP is when a single base pair is replaced with another .

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Comparing SNPs with CNVs

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  1. Comparing SNPs with CNVs By Samuel Saldana

  2. What are SNPs? • “SNP” Stands for single nucleotide polymorphism • It is the most common type of genetic variation in people. • SNP is when a single base pair is replaced with another. • For example, the cytosine, guanine pair in the top picturewas replaced with the thymine and adenine

  3. SNPs are not harmful nor helpful to the body. • SNPs help doctors personalize medication and it can help with determining the risk of getting a future disease. • One possible disease SNPs can help determine is Alzheimer’s disease.

  4. What are CNVs? • “CNV” stands for Copy-Number Variations. • CNVs are a form of structural variations causes alterations of the DNA in a genome • CNVS can cause a cell to have an abnormal number of copies of one or more places in a chromosome. • CNVs van either delete or duplicate a base pair. • For example, a chromosome that normally has a part that’s A-B-C-D, could be A-B-C-C-D or A-B-D

  5. Human Genome Project SNP Mapping Goals In 1998, the DOE (Department of Energy) and NIH (National Institutes of Health) Human Genome programs made goals to identify and map SNPs. Some of these goals are to: • Develop technologies to find large-scale identifications and scoring of SNPs • Create a SNP map of at least 100,000 markers. • Find common variants in the coding regions

  6. This is an Example of an SNP based map for a Zebra Fish

  7. What do they have in Common? • Scientists are both making maps for SNPs and CNVs (the map is called a HapMap) • They both change base pairs • They both can help determine an individuals risk of getting a future disease and help personalize medicine. • Both SNPs and CNVs are inherited by parents.

  8. How are they different? • SNPs can help nor hurt the body in anyway while CNVs are a mutation and can cause cancer and other diseases. • SNPs occurs more times then CNVs • More people have SNPs then CNVs • CNVs can change base pairs in the chromosomes while SNPs change base pairs in a DNA

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