Molecular and Cell Genetics Quiz

Genetic Variation and Genetic Disease

• Cystic Fibrosis (CF), Huntingdon's Disease (HD), and psoriasis are examples of genetic diseases resulting from genetic variation.
• Genetic variation refers to changes in the nucleotide sequence of the DNA.

Epigenetic Changes and Epigenetic Disease

• Fragile X syndrome is an example of an epigenetic disease resulting from 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 analysis of large amounts of genetic data.
• Population-based initiatives are used for stratified medicine, which involves tailoring medical treatment to individual patients based on their genetic characteristics.

Glossary of 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.
• SNV (Single Nucleotide Variant): a difference in a single nucleotide.
• CNV (Copy Number Variant): insertion, deletions, inversion, and duplications of greater than 1,000 nucleotides.
• Chromosomal Variation: variation in chromosome number, including multiple sets of chromosomes.
• STRs (Short Tandem Repeats): repetitive elements comprised of recurring DNA motifs of 2–6 bases.