Created from Youtube video: https://www.youtube.com/watch?v=5W-6J79qvh8videoConcepts covered:lactase gene, lactose tolerance, single nucleotide polymorphism, gene expression, personalized medicine
The video discusses the genetic basis of lactose tolerance, highlighting a specific mutation in the lactase gene that allows some individuals to digest milk. It also explores the concepts of single nucleotide variations and polymorphisms, the impact of mutations on gene expression and phenotype, and the challenges of personalized medicine, including the complexity of polygenic risk scores.
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NGS22126 2025 functional variation
Concepts covered:lactase gene, lactose tolerance, single nucleotide polymorphism, gene expression, personalized medicine
The video discusses the genetic basis of lactose tolerance, highlighting a specific mutation in the lactase gene that allows some individuals to digest milk. It also explores the concepts of single nucleotide variations and polymorphisms, the impact of mutations on gene expression and phenotype, and the challenges of personalized medicine, including the complexity of polygenic risk scores.
Question 1
Lactose tolerance is influenced by genetic mutations.
Question 2
How do somatic mutations differ from germline mutations?
Question 3
A _____ mutation introduces a stop codon, halting protein synthesis.
Question 4
CASE STUDY: A geneticist is studying lactose tolerance in a diverse population.
Identify the incorrect application of genetic variation.
Question 5
CASE STUDY: A genetic counselor assesses risk scores for hereditary diseases.
Select three correct uses of risk scores.
Question 6
Somatic mutations are not passed to offspring.
Question 7
What is a polygenic risk score?
Question 8
A _____ mutation affects only the individual, not their offspring.
Question 9
CASE STUDY: A researcher analyzes ancient DNA to trace lactose tolerance evolution.
Identify the incorrect application of ancient DNA analysis.
Question 10
Germline mutations can be inherited by the next generation.
Question 11
How do mutations affect protein structure?
Question 12
The transition/transversion ratio in humans is approximately _____.
Question 13
All mutations lead to negative health effects.
Question 14
What is a transition mutation?
Question 15
A mutation in the _____ region can affect gene expression levels.
Question 16
Precision medicine treats all patients with the same drug.
Question 17
What causes lactose tolerance in humans?
Question 18
A single nucleotide polymorphism implies a mutation exists at some _____ in the population.
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