Genome Flashcards
Summarize the significance of the human genome sequencing.
The sequencing of the human genome is a major achievement that provides insights into human health and disease, enabling better understanding and treatment of various conditions.
Describe the initial steps taken before sequencing the human genome.
Before sequencing the human genome, genomes of simpler organisms were sequenced to develop the necessary technology and expertise, allowing for cross-comparison of protein coding sequences, gene regulatory sequences, and noncoding RNA sequences.
Define dideoxynucleotide in the context of Sanger sequencing.
A dideoxynucleotide is a modified nucleotide that lacks a hydroxyl group at the 3’ position, which allows it to act as a chain terminator during DNA synthesis in Sanger sequencing.
How does chain termination work in Sanger sequencing?
In Sanger sequencing, chain termination occurs when a dideoxynucleotide is incorporated into a growing DNA strand, preventing further elongation of the chain, thus allowing for the determination of the DNA sequence.
Explain the contribution of Fred Sanger to genome sequencing.
Fred Sanger invented the Sanger sequencing method, for which he received his second Nobel Prize, significantly advancing the field of genome sequencing.
Describe the Sanger method of sequencing.
The Sanger method of sequencing is a technique used to determine the nucleotide sequence of DNA, utilizing dideoxynucleotides as chain terminators.
How did genome analysis change our understanding of protein-coding genes?
Genome analysis revealed that there are surprisingly few protein-coding genes in the human genome.
Define the potential medical implications of the $1,000 human genome.
The $1,000 human genome may allow for genomics to predict diseases before symptoms appear, leading to early therapy.
What is the significance of developing new sequencing methods in genomics?
New sequencing methods aim to reduce costs, making genome analysis more accessible as a tool for medical diagnosis.
Explain the relationship between the Sanger method and antiviral development.
The Sanger method’s use of dideoxynucleotides as chain terminators is based on chemical principles that also underlie the development of many antiviral drugs.
How might genomics influence early disease therapy?
Genomics could enable the prediction of diseases prior to the onset of symptoms, facilitating early therapeutic interventions.
Describe the significance of human genome sequencing.
Human genome sequencing revealed a lower-than-expected number of genes, with only about 20,000 genes identified instead of the predicted 100,000.
How do we produce a higher number of proteins than genes in the human genome?
The discrepancy between the number of genes and proteins is due to a process called alternative splicing, which allows for multiple proteins to be produced from a single gene.
Define the majority composition of the human genome.
The majority of the human genome is non-protein coding, meaning it does not directly code for proteins.
What is the role of non-protein coding regions in the genome?
Non-protein coding regions are important as they code for RNA and other essential functions, indicating that they are not merely ‘junk’ DNA.
