Podcast
Questions and Answers
Where do SNPs mainly occur in the genome?
Where do SNPs mainly occur in the genome?
What percentage of SNPs is found in coding regions?
What percentage of SNPs is found in coding regions?
How can SNPs located in noncoding regions influence disease susceptibility?
How can SNPs located in noncoding regions influence disease susceptibility?
What is the term used for SNPs thought to have no effect on gene function or individual phenotype?
What is the term used for SNPs thought to have no effect on gene function or individual phenotype?
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In what situation can 'neutral' SNPs still be useful markers according to the text?
In what situation can 'neutral' SNPs still be useful markers according to the text?
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What is the likelihood of SNPs occurring in coding regions based on their proportion in the genome?
What is the likelihood of SNPs occurring in coding regions based on their proportion in the genome?
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What is the primary mechanism by which 'neutral' SNPs can be used as markers for disease susceptibility?
What is the primary mechanism by which 'neutral' SNPs can be used as markers for disease susceptibility?
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What is the typical effect of most SNPs on disease susceptibility?
What is the typical effect of most SNPs on disease susceptibility?
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What is the term used to describe the physical proximity of a neutral SNP and a disease-associated polymorphism?
What is the term used to describe the physical proximity of a neutral SNP and a disease-associated polymorphism?
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What is the main characteristic of complex rearrangements of genomic material in CNVs?
What is the main characteristic of complex rearrangements of genomic material in CNVs?
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What is the size range of the contiguous stretches of DNA involved in CNVs?
What is the size range of the contiguous stretches of DNA involved in CNVs?
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What is the main difference between 'neutral' SNPs and other SNPs?
What is the main difference between 'neutral' SNPs and other SNPs?
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What is the potential use of identifying SNPs, alone or in combination, in the context of disease prevention?
What is the potential use of identifying SNPs, alone or in combination, in the context of disease prevention?
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What is the relationship between the physical proximity of a neutral SNP and a disease-associated polymorphism, and their coinheritance?
What is the relationship between the physical proximity of a neutral SNP and a disease-associated polymorphism, and their coinheritance?
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What is the implication of the weak effect of most SNPs on disease susceptibility?
What is the implication of the weak effect of most SNPs on disease susceptibility?
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Study Notes
SNPs
- SNPs occur throughout the genome, including exons, introns, intergenic regions, and coding regions.
- Only about 1% of SNPs are found in coding regions, which is roughly what would be expected by chance, given that coding regions make up about 1.5% of the genome.
- SNPs in noncoding regions can affect gene expression by altering genomic regulatory elements, directly influencing disease susceptibility.
- "Neutral" SNPs are thought to have no effect on gene function or individual phenotype.
- Even "neutral" SNPs can be useful markers if they are coinherited with a disease-associated polymorphism due to physical proximity, resulting in linkage disequilibrium.
- The impact of most SNPs on disease susceptibility is relatively weak.
CNVs
- CNVs (Copy Number Variations) are a type of genetic variation characterized by different numbers of large, contiguous stretches of DNA, ranging from 1000 base pairs to millions of base pairs.
- CNVs can be biallelic, resulting in simple duplications or deletions in some individuals.
- Complex rearrangements of genomic material can occur at other sites, with multiple variants present in the human population.
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Description
Explore the distribution of Single Nucleotide Polymorphisms (SNPs) across the genome, including their occurrence in exons, introns, intergenic regions, and coding regions. Understand how SNPs in noncoding regions can affect gene expression and disease susceptibility.