Human genome project Flashcards
What is the Human Genome Project (HGP)?
The Human Genome Project (HGP) was an international scientific research initiative aimed at sequencing the entire human genome, which consists of approximately 3.3 billion base pairs.
When did the Human Genome Project start and finish?
The HGP began in 1990 and was officially completed on April 14, 2003.
What were the main goals of the Human Genome Project?
The main goals included sequencing the entire human genome, identifying all genes, creating genome sequence databases, and addressing ethical, legal, and social implications.
What technologies enabled the Human Genome Project?
The HGP utilized gene mapping techniques and DNA sequencing technologies to achieve its goals.
What is the significance of the initial rough draft released in June 2000?
The initial rough draft provided a foundational understanding of the human genome structure and was a significant milestone in the project.
What percentage of the human genome was sequenced by the HGP?
The HGP successfully sequenced about 92% of the euchromatic regions of the human genome.
What is GC content?
Guanine-Cytosine (GC) content refers to the percentage of guanine (G) and cytosine (C) bases in a DNA molecule. The average GC content of the human genome is approximately 40.9%.
What does GC content indicate about a genome?
GC content can influence gene density, stability of DNA, and overall genomic functionality. Regions with higher GC content are often associated with gene-rich areas.
What are some key features of the human genome revealed by the HGP?
- The human genome consists of approximately 3.1 billion base pairs.
- On average, a gene consists of about 3,000 nucleotides.
- Less than 2% of the genome codes for proteins.
- More than 50% of genes have unknown functions.
- Most of the genome consists of repetitive sequences with no specific coding purpose.
How did the HGP contribute to bioinformatics?
The HGP led to significant advancements in bioinformatics by generating large datasets that required new computational tools for analysis and interpretation.
What are some applications resulting from the Human Genome Project?
Applications include identifying genetic markers for diseases, understanding genetic variations associated with health conditions, and developing personalized medicine approaches based on individual genomic data.
What was one major limitation noted in sequencing during the HGP?
The project did not fully sequence heterochromatic regions such as those found in centromeres and telomeres due to their complexity and difficulty in sequencing.
How has our understanding of genetic diversity changed since the completion of the HGP?
Following HGP, it was estimated that there are approximately 20 million bases of sequence variation in a typical diploid human genome, highlighting significant genetic diversity among individuals.
The achievement of HGP
- Obtain a High-Quality Genome Sequence: The project aimed for a comprehensive and accurate sequence of the human genome, targeting over 90% coverage initially and ultimately achieving more than 99% accuracy.
- Identify Gene Number and Distribution: The project included annotating the genome, which involved identifying the number of genes, their locations, and characteristics such as GC content (the percentage of guanine and cytosine bases in the DNA).
- Explore Genetic Variations and Disease Associations: By analyzing small variations within the genome, researchers sought to understand how these variations relate to human diseases, including cancer and genetic disorders
