Podcast
Questions and Answers
What is the primary difference between a mutation and a polymorphism?
What is the primary difference between a mutation and a polymorphism?
- A mutation has a negative impact, while a polymorphism has a neutral or positive impact. (correct)
- A mutation has a functional impact, while a polymorphism does not.
- A mutation occurs in coding regions, while a polymorphism occurs in non-coding regions.
- A mutation is a germline alteration, while a polymorphism is a somatic alteration.
What is the estimated frequency of Single Nucleotide Polymorphisms (SNPs) in the human genome?
What is the estimated frequency of Single Nucleotide Polymorphisms (SNPs) in the human genome?
- One in every 10-20kb
- One in every 50-100kb
- One in every 1-2kb (correct)
- One in every 5-10kb
Which of the following types of polymorphisms is defined as a sequence variation of more than 1kb?
Which of the following types of polymorphisms is defined as a sequence variation of more than 1kb?
- Tandem repeats
- Copy number variation (CNV) (correct)
- Insertion-deletion polymorphism (Indel)
- Structural variation
What is the term for the presence of two or more variations in a DNA sequence?
What is the term for the presence of two or more variations in a DNA sequence?
Which of the following is NOT a type of polymorphism?
Which of the following is NOT a type of polymorphism?
What is the primary reason why most SNPs do not have a direct functional impact?
What is the primary reason why most SNPs do not have a direct functional impact?
What is the characteristic of almost all alleles?
What is the characteristic of almost all alleles?
What is the potential effect of a SNP?
What is the potential effect of a SNP?
How is the frequency of the G allele calculated in the given example?
How is the frequency of the G allele calculated in the given example?
What is the relationship between SNP1 and SNP2 if allele A at SNP1 → G at SNP2?
What is the relationship between SNP1 and SNP2 if allele A at SNP1 → G at SNP2?
What is the term for the different forms of a gene?
What is the term for the different forms of a gene?
What is the type of polymorphism that involves repeat elements within non-coding DNA?
What is the type of polymorphism that involves repeat elements within non-coding DNA?
How many individuals have the genotype AA in the given example?
How many individuals have the genotype AA in the given example?
What is the frequency of the A allele in the given example?
What is the frequency of the A allele in the given example?
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Study Notes
Genetic Variation
- Genetic variation can be classified into four types: base pair, tandem repeats, structural variations, and others.
DNA Polymorphisms
- Polymorphism is defined as the presence of two or more variations in a DNA sequence.
- Types of polymorphisms include:
- Single Nucleotide Polymorphism (SNP): a change in a single nucleotide, e.g., A to G or C to G.
- Insertion-deletion polymorphism (Indel): a change in the number of nucleotides, e.g., AAAAT or AAT.
- Tandem repeats: a sequence of nucleotides repeated in a row, either short or long.
- Structural variation and copy number variation (CNV): a change in the number of copies of a DNA sequence, typically larger than 1kb.
Single Nucleotide Polymorphism (SNPs)
- SNPs are the most abundant type of polymorphism in the human genome.
- They occur approximately every 1-2 kilobase pairs.
- Some SNPs are associated with phenotypic differences, but most are not.
- Almost all SNPs have only two alleles (bi-allelic).
Genotypes and Allele Frequency
- Genotypes are the measured genetic makeup of an individual, while allele frequency is the percentage of individuals with a particular allele.
- Example: SNP rs9416742 has alleles G and A, with a frequency of G allele = 0.828 and A allele = 0.172 in Europeans.
Linkage Disequilibrium
- Close SNPs are not independent, and may be correlated with each other.
- Linkage disequilibrium occurs when the presence of one allele at one SNP is correlated with the presence of another allele at a nearby SNP.
Haplotypes and Phase
- Haplotypes are a set of alleles at multiple SNPs that are inherited together.
- Phase refers to the specific sequence of alleles in a haplotype.
Tandem Repeat Polymorphisms
- Tandem repeat polymorphisms occur when a sequence of nucleotides is repeated in a row, either short or long.
- They are often found in non-coding DNA.
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