GENE3340 Molecular Genetics Quiz

Genetic Variation Overview

• Course: GENE3340 - Genetic Variation I & II, led by Dr. Mark Cruickshank at UWA.
• Emphasis on the intellectual property of course materials; sharing without permission violates UWA conduct and copyright regulations.

Learning Objectives

• Differentiate between genetic terms: variant and polymorphism; assess human variation scale.
• Describe key genetic variations: SNVs, SNPs, indels, CNVs, and their nomenclature.
• Recognize that genetic variations might not always lead to functional changes.
• Explain types of repetitive genomic regions and the impact of replication slippage on genetic diversity; applications in genetic fingerprinting.
• Distinguish structural variations: balanced vs. unbalanced.
• Identify factors causing DNA damage, both exogenous and endogenous.
• Acknowledge common DNA damage types and their repair mechanisms.
• Understand the objectives behind the HapMap project and the 1000 Genomes project.
• Explore databases for curating human genetic variation and associated consequences.

Historical Milestones in DNA Function

• 1859: Darwin's "On the Origin of Species" lays the groundwork for evolutionary biology.
• 1866: Mendel's principles of inheritance via phenotype segregation in pea plants.
• 1869: Miescher isolates "nuclein", later identified as DNA.
• 1881: Kossel's discovery of DNA and RNA building blocks: A, T, G, C, U.
• 1882: Flemming's observation of chromosome doubling during replication.
• Early 1900s: Boveri and Sutton develop chromosome theory, linking chromosomes to inheritance.
• 1944: Avery's revelation that DNA functions as the transforming principal of heredity.
• Chargaff's rules reveal species-specific variations in DNA.
• Late 1940s: McClintock uncovers "jumping genes", indicating genetic mobility.

Automated DNA Sequencing Advances

• Oligonucleotide synthesis for fluorescent primers revolutionizes DNA sequence analysis (Smith et al., 1985).
• Fluorescence detection enhances the efficacy of automated DNA readouts (Smith et al., 1986).

Human Genome Project

• Conducted from 1990 to 2003, it marked a massive international collaborative effort to decode the human genome.
• Achievements include 1999 sequencing of human chromosome 22 and the 2001 analysis of the initial human genome sequence.
• Highlighted the importance of the project as one of history's most significant scientific undertakings.
• Key findings include the complete human genome sequence published in 2002, revealing approximately 3.2 billion base pairs.

Further Reading

• Key reference: Chapter 4, "Genetics and Genomics in Medicine" (1st Edition) by Strachan.