Lecture 5 - The human genome project Flashcards
Who produced the first complete genome sequence of any organism?
J. Craig Venter
How many base pairs were sequenced by J. Craig Venter?
1.8 million
When was the full human genome sequenced?
2003
When was all human genome set to be sequenced by?
Between 2008-2015
1,000 genomes project - describe all human genetic variation
When could gene mapping be done with detecting the likelihood to diseases?
2012-2018
On what date was the first draft of the complete genome sequence reported?
14th April 2003
What are the goals of the human genome project?
- Identify all genes
- Determine sequences
- Store information
- Improve tools for analysis
- Transfer related technologies
- Address ethical, legal, social issues
When identifying genes how many were expected and how many were found?
100,000 genes expected
20,000 found found
Only 1.5% of our genome is protein coding
How big is the haploid human genome?
3,2000,000,000 bp
(3.2 x 10^9)
What is a chromosome fusion event?
2 chimp chromosomes fused in man
What are the benefits to human genome project?
Understanding our evolutionary history
(Human and chimpanzee genomes can be compared to identify genes that contribute to uniquely human traits)
Personalised medicine
(AI that plans how to treat people based on their genome)
To identify functions of all our genes
(Medicine can become predictive, preventative, personalised)
When was there a genomic test for breast cancer risk?
2019
What are the ethical or legal issues associated with the human genome project?
Could be refused employment
Could be denied employment
What is the central dogma of molecular biology?
Describes the transfer of information from DNA via an RNA intermediate to protein
Information cannot be transferred back from protein or nucleic acid
Recognised DNA replication and RNA replication also transfer information
Who published The Central Dogma and when?
Francis Crick
1958
What are the 5 steps to the Central Dogma of molecular biology?
- DNA replication
- Transcription
- Translation
- RNA replication
- Reverse transcription
Who was Gregor Mendel and what was he known for?
Demonstrated the inheritance of certain traits follow particular patterns
Referred to the laws of Mendelian inheritance
The Father of Genetics - naturalistic framework
Why did Mendel work with peas?
They produce large numbers of offspring
They have a relatively short generation time
Both self-fertilisation and cross-fertilisation are possible
Pure-breeding lines with contrasting features were available
What was Mendel’s experiment with peas?
Monohybrid cross - plants with green peas crossed with those with yellow
Only yellow seeds produced (called a dominant trait)
Yellow offspring (Heterozygous) mixed with pure green
Peas were mixture of green and yellow (1:1 ratio)
Called a recessive trait
What was the explanation to Mendel’s first law of inheritance?
Each individual has 2 factors for each trait, one from each parent
If the 2 factors are identical, the individual is homozygous for the trait
If the 2 factors have different information, the individual is heterozygous
Alternative forms of a factor are called allelomorphs (alleles)
What is the Law of Segregation?
2 coexisting alleles of an individual for each trait segregate during gamete formation so that each gamete gets only one of the 2 alleles
Gametes fuse randomly so there is a discrete inheritance of a trait than than a blending
What was the chromosomal theory of inheritance?
Sex was determined via chromosome-based inheritance
Proposed Mendel’s factors were carried on chromosomes
How was sex-linkage detected?
1910, Morgan
Wild-type fruit flies have red eyes but some of his mutant flies has white eyes
Red-eyed females were crossed with white-eyed males = gave all red-eyed offspring
White-eyed females crossed with red-eyed males gave red-eyed females and white-eyed males
Results were influenced by sex of parents - concluded genes for eye colour was carried on the X chromosome
