Podcast
Questions and Answers
What is the primary distinction between mutation and polymorphism in genetic variation?
What is the primary distinction between mutation and polymorphism in genetic variation?
- Polymorphism refers to a DNA sequence variation that is present in more than 1% of the population. (correct)
- Mutation occurs only in individuals over 40 years old.
- Both mutation and polymorphism result from large-scale chromosomal abnormalities.
- Mutation is a change in DNA sequence that occurs in more than 1% of the population.
Which of the following statements accurately describes the Human Genome Project?
Which of the following statements accurately describes the Human Genome Project?
- Completed in 1996, it focused on small scale genetic variations.
- Involved exclusively Watson and Crick in genetic analysis.
- Lasted 15 years and was completed in 2003, mapping the entire human genome. (correct)
- It primarily aimed at identifying environmental influences on traits.
What does the study of molecular genetics primarily investigate?
What does the study of molecular genetics primarily investigate?
- The influence of lifestyle choices on disease susceptibility.
- The historical development of genetic science.
- The structure and function of genes at the molecular level. (correct)
- The distribution of genetic traits across different populations.
In genetic terminology, what does the term 'locus' refer to?
In genetic terminology, what does the term 'locus' refer to?
Which of the following correctly distinguishes between homozygous and heterozygous genotypes?
Which of the following correctly distinguishes between homozygous and heterozygous genotypes?
What role does quantitative genetic research primarily serve in genetics?
What role does quantitative genetic research primarily serve in genetics?
Which of the following best describes a 'polymorphism' in genetic variation?
Which of the following best describes a 'polymorphism' in genetic variation?
What significant discovery was made by Watson and Crick in 1953?
What significant discovery was made by Watson and Crick in 1953?
How long did the Human Genome Project take to complete?
How long did the Human Genome Project take to complete?
What type of genetic variation is characterized by a single base change?
What type of genetic variation is characterized by a single base change?
Flashcards
Quantitative Genetic Research
Quantitative Genetic Research
The study of how genes and the environment influence traits.
Molecular Genetic Research
Molecular Genetic Research
The study of the structure and function of genes at the molecular level.
Mutation
Mutation
A change in the DNA sequence from the normal, or 'wild type,' version.
Polymorphism/DNA variant
Polymorphism/DNA variant
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Chromosomal Abnormality
Chromosomal Abnormality
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What type of research helps predict genetic success?
What type of research helps predict genetic success?
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What is a DNA variant?
What is a DNA variant?
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What is a genotype?
What is a genotype?
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What are chromosomal abnormalities?
What are chromosomal abnormalities?
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Who discovered the structure of DNA?
Who discovered the structure of DNA?
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Study Notes
Quantitative Genetic Research
- Aims to understand the combined influence of genes and environment on traits.
- Provides the most likely scenario for predicting genetic contributions to variation in traits.
- Helps evaluate the effectiveness of gene identification efforts.
Molecular Genetic Research
- Examines the structure and function of genes at a molecular level.
- Identifies specific genetic factors influencing traits or disease risks.
- Quantifies the impact of these genetic factors.
- Explains how genes affect individual variations in traits or conditions.
Discovery of DNA
- Watson and Crick (1953) and Maurice Wilkins made significant contributions.
- Rosalind Franklin's work was crucial to the discovery.
Human Genome Project
- Completed in 2003.
- Took approximately 15 years to complete.
Genetic Variation
- Mutation: Alteration in DNA sequence from the normal (wild-type) form (can be pathogenic).
- Polymorphism/DNA Variant: Variations in DNA sequence at a specific location (locus) present in more than 1% of the population.
- Non-polymorphic: DNA base sequences that don't vary within a population.
Glossary
- Genes: Units of hereditary information passed to offspring.
- Locus: Specific location on a chromosome.
- Alleles: Variant forms of a gene at the same location.
- Allele Frequency: The proportion of specific alleles in a population.
- Genotype: The combination of two alleles at a specific gene locus.
- Homozygous: Having identical alleles at a locus.
- Heterozygous: Having different alleles at a locus.
Types of Genetic Variation
- Small Scale: Single base changes (Single Nucleotide Polymorphisms – SNPs).
- Medium Scale: Variations in the number of copies of a DNA segment (Copy Number Variants – CNVs).
- Large Scale: Changes in chromosome structure or number.
- Includes changes in the number of chromosomes or arrangement of chromosome parts.
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