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Questions and Answers
What term refers to the physical location of alleles on DNA?
What term refers to the physical location of alleles on DNA?
All mutations in DNA will spread in a population with equal frequency.
All mutations in DNA will spread in a population with equal frequency.
False
Match the following terms with their definitions:
Match the following terms with their definitions:
Major allele = The most common allele in a population Minor allele = All other alleles aside from the major Germline mutations = Mutations that can be inherited Loci = Physical location of alleles on DNA
If 6 people have AA, 3 have AB and 1 have BB, how many A alleles are there in the population?
If 6 people have AA, 3 have AB and 1 have BB, how many A alleles are there in the population?
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Germline mutations occur in somatic cells and are not inherited.
Germline mutations occur in somatic cells and are not inherited.
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What is the recommendation for poor metabolizers (PM) of codeine?
What is the recommendation for poor metabolizers (PM) of codeine?
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Ultrarapid metabolizers (UM) of nortriptyline are recommended to follow normal dosing guidelines.
Ultrarapid metabolizers (UM) of nortriptyline are recommended to follow normal dosing guidelines.
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What does EM stand for in pharmacogenetics classifications?
What does EM stand for in pharmacogenetics classifications?
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The enzyme __________ is primarily responsible for the metabolism of codeine.
The enzyme __________ is primarily responsible for the metabolism of codeine.
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Match the CYP2D6 metabolizer types with their characteristics:
Match the CYP2D6 metabolizer types with their characteristics:
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What is the allele frequency of allele A?
What is the allele frequency of allele A?
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The total number of alleles in the population is 30.
The total number of alleles in the population is 30.
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How many individuals in the population are homozygous AA?
How many individuals in the population are homozygous AA?
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The frequency of allele B is _____
The frequency of allele B is _____
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Match the following traits with their respective allele counts:
Match the following traits with their respective allele counts:
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If the total number of individuals is 10, what is the frequency of allele A?
If the total number of individuals is 10, what is the frequency of allele A?
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There are an equal number of A and B alleles in this population.
There are an equal number of A and B alleles in this population.
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What percentage of the alleles in the population are A alleles?
What percentage of the alleles in the population are A alleles?
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The genotype AB has _____ individuals.
The genotype AB has _____ individuals.
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What is the primary process that selects alleles for survival within a population?
What is the primary process that selects alleles for survival within a population?
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Genetic drift operates through the process of natural selection.
Genetic drift operates through the process of natural selection.
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What term describes the transfer of alleles from one population to another?
What term describes the transfer of alleles from one population to another?
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________ is the random change in allele frequency in a population due to chance events.
________ is the random change in allele frequency in a population due to chance events.
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Which of the following statements about genetic drift is true?
Which of the following statements about genetic drift is true?
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Mixing with Neanderthals resulted in the emergence of new genes in populations.
Mixing with Neanderthals resulted in the emergence of new genes in populations.
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What happens to alleles during genetic drift when natural selection is not at play?
What happens to alleles during genetic drift when natural selection is not at play?
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When alleles are selected based on reproductive success, this process is known as __________.
When alleles are selected based on reproductive success, this process is known as __________.
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What percentage of human DNA encodes proteins?
What percentage of human DNA encodes proteins?
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1 in 1000 base pairs is identical between any two individuals.
1 in 1000 base pairs is identical between any two individuals.
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What is the most common type of genetic variation?
What is the most common type of genetic variation?
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The entire haploid genome consists of approximately __________ billion base pairs.
The entire haploid genome consists of approximately __________ billion base pairs.
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How many single nucleotide variants are typically found per individual?
How many single nucleotide variants are typically found per individual?
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Knowledge of geographical ancestry is less precise than race in understanding individual biology.
Knowledge of geographical ancestry is less precise than race in understanding individual biology.
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What is the estimated number of transcripts identified in 2019?
What is the estimated number of transcripts identified in 2019?
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DNA variations can help identify genes involved in __________ or drug response.
DNA variations can help identify genes involved in __________ or drug response.
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Match the following alleles to their enzyme activity:
Match the following alleles to their enzyme activity:
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Study Notes
Pharmacogenomics Goals
- Pharmacogenomics aims to classify individuals based on genetic variation to determine the best drug and dosage.
- Genetic variations influence how individuals respond differently to drugs.
- PGx testing can help tailor treatment plans.
DNA Variation in Populations
- DNA variation arises from DNA combination in germ cells.
- Crossover and recombination during meiosis contribute to variation.
- Mutations and recombination within genes introduce variations that are passed to next generations.
- Variations in genes can lead to differences in individual traits.
DNA Origination
- Genetic variations originate in germ cells of the father.
- Mutations in somatic cells do not typically affect future generations.
- Thirty mutations are estimated per human sperm.
First Level DNA Variation
- Germline mutations cause variations in offspring compared to parents.
- Mutations in genes lead to alleles, variations within a gene.
- Alleles' location in the DNA is denoted as loci.
- Not all mutations spread equally in the population.
Major and Minor Alleles
- A major allele is the most common allele in a population.
- A minor allele refers to other alleles in the population.
- The frequency of an allele provides information on its prevalence.
- Allele frequencies can vary between populations.
What Determines Allele Spread?
- Natural selection favors alleles that improve survival and reproduction.
- Genetic drift leads to random changes in allele frequencies.
- Genetic variation mixes alleles between populations, transferring them between populations.
DNA Variation Population Differences
- Individuals may differ in genetic variation between populations.
- Genetic variations within populations are significant compared to between populations.
- Variations in skin pigmentation are relatively high within continents and low between continents.
Allele Frequency
- Allele frequencies are used to characterize populations.
- Allele frequencies in different populations are distinct.
- Understanding the geographic ancestry is more helpful than simply race when examining differences.
DNA Variants in Humans
- The human genome is approximately 3 billion base pairs.
- Approximately 1-2% of the genome codes for proteins (exomes).
- The majority (~98-99%) of the genome is non-coding DNA.
- Many functional RNA molecules reside in the non-coding region.
DNA Variations and Medicine
- DNA variations affect the entire genome, but only a small fraction are located in genes.
- Mapping variations helps identify genes related to diseases and drug responses.
- Variations can help categorize patients based on their drug responses.
Types of DNA Variations (SNVs)
- Single Nucleotide Variants (SNVs): the most common type of genetic variation.
- SNVs are also known as single nucleotide polymorphisms (SNPs).
- SNVs are preferred over SNPs when the frequency exceeds 1%.
Minor Allele Frequency (MAF)
- MAF: represents the frequency of the less common allele in a population.
- Common MAF is defined as greater than 5%.
- Low MAF ranges from 1% to 5%.
- Rare MAF is less than 1%.
- Very rare MAF is less than 0.1%.
SNVs and Gene Function
- SNVs in exons (coding regions) can disrupt gene function.
- SNVs in introns or intergenic regions might not directly affect the adjacent gene.
- Different types of SNVs (e.g., synonymous, missense, nonsense) can lead to different effects on proteins.
How SNVs Disrupt Gene Function (Specific Examples)
- Sickle cell disease results when a gene mutation leads to a missense mutation change.
- Specific mutations, such as nonsense mutations, can lead to protein production problems.
- Other mutations may cause a silent mutation, with no changes in the protein.
SNV Variations (Short Indels)
- Short Indels are the second most common genetic variant.
- These variants introduce insertions or deletions of small segments (typically 1-6 basepairs).
- Frameshift mutations occur due to insertion and deletion.
SNV Variations (Structural)
- Copy number variations (CNVs) involve variations in the number of gene copies.
- Inversions, translocations, and duplications represent structural changes in DNA sequence.
Identifying Genes of Interest
- Variations can be used as landmarks to identify genes linked to diseases or drug responses.
- This involves comparing DNA variation in populations with and without the disease.
- Finding associated genes can involve using large-scale studies like GWAS.
GWAS (Genome-Wide Association Studies)
- GWAS is a strategy to identify genetic variations associated with diseases or drug responses.
- It screens numerous SNPs across the genome.
- GWAS relies on statistical differences and the presence of linkage disequilibrium.
GWAS Results Interpretation
- Manhattan plots are used to visualize the results of GWAS.
- Significance (p-value) helps determine the impact of genetic variants.
- SNPs with lower p-values show stronger associations.
Pharmacogenomics Success Stories
- Success stories show the practical use of pharmacogenomics in medicine.
- Understanding and knowing variations in genes in drug response can tailor treatment plans based on needs.
Pharmacodynamic/Pharmacokinetic Factors
- Pharmacodynamics and pharmacokinetics determine drug efficacy.
- Pharmacodynamics involve changes in the target cell/organ.
- Pharmacogenetics determine variation in response due to genetic variations.
Challenges in Detecting DNA Variations
- Variation detection using arrays has limitations.
- Cost and time can be a factor in genome-wide studies.
- Sequencing has various challenges, including data handling issues, and gaps.
Pharmacogenomics Applications
- Genetic variations are related to specific traits, diseases, or drug response.
- Pharmacogenomics strategies help to personalize treatment to individual needs.
- Specific considerations are important with rare genetic variants.
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Description
Test your understanding of genetics concepts such as allele locations, mutations, and gene variations. This quiz covers important terms and definitions related to allele frequencies in populations and pharmacogenetics classifications. Perfect for students studying biology and genetics.
