Podcast
Questions and Answers
What is the primary role of functional genomics in 21st century medicine?
What is the primary role of functional genomics in 21st century medicine?
Which of the following is an example of chromosomal variation?
Which of the following is an example of chromosomal variation?
What is the term for a change in the nucleotide sequence of the DNA?
What is the term for a change in the nucleotide sequence of the DNA?
Which of the following diseases is associated with epigenetic changes?
Which of the following diseases is associated with epigenetic changes?
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What is the primary function of genomics in 21st century medicine?
What is the primary function of genomics in 21st century medicine?
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What is the term for repetitive elements comprised of recurring DNA motifs of 2–6 bases?
What is the term for repetitive elements comprised of recurring DNA motifs of 2–6 bases?
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What is the term for a difference in a single nucleotide?
What is the term for a difference in a single nucleotide?
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Which of the following is an example of a genetic disease?
Which of the following is an example of a genetic disease?
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Study Notes
Genetic Basis of Disease
- Genetic variation can lead to disease, as seen in Cystic Fibrosis (CF), Huntington's Disease (HD), and psoriasis
- Epigenetic changes can also lead to disease, such as in Fragile X syndrome
Genetic Variation and Genetic Disease
- Genetic variation refers to changes in the nucleotide sequence of DNA
- Types of genetic variation include:
- SNV (Single Nucleotide Variant): a difference in a single nucleotide
- CNV (Copy Number Variant): insertion, deletion, inversion, or duplication of >1,000 nucleotides
- Chromosomal Variation: variation in chromosome number, multiple sets of chromosomes
- STRs (Short Tandem Repeats): repetitive elements comprised of recurring DNA motifs of 2-6 bases
Epigenetic Changes and Epigenetic Disease
- Epigenetic changes refer to chemical modifications to DNA or histone proteins without altering the underlying DNA sequence
- Fragile X syndrome is an example of a disease caused by epigenetic changes
Functional Genomics and High-Throughput Technologies
- Functional genomics involves the study of the function of genes and their products
- High-throughput technologies enable the rapid analysis of large amounts of genomic data
- Population-based initiatives for stratified medicine aim to identify genetic variations associated with specific diseases and develop targeted treatments
Key Terms
- Genome: an organism's complete set of DNA
- Gene: a distinct sequence of nucleotides representing the unit of genetic information
- Allele: each of two or more alternative forms of a gene that arise by variation
- Genetic variant: a change in the nucleotide sequence of the DNA
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Description
This quiz covers the genetics basis of disease, including how genetic and epigenetic changes can lead to disease and the role of genomics and functional genomics in 21st century medicine.
