Application of genetics Flashcards
What was the purpose of the human genome project?
To improve knowledge and understanding of genetic disorders and consequently improve their diagnosis and treatment.
What were the aims for the human genome project?
To identify all genes in the human genome and identify which chromosome it is on.
Store information and databases.
Improve for data analysis.
Transfer related technology to the private sector to develop medical innovation.
Address the ethical, legal and social issues that might arise when undertaking the project.
How was the human genome project undertaken?
Anonymously and looked at the base sequence of individuals.
What is genomics
It’s the study of the structure, function, evolution and mapping of genomes.
What are the results of the human genome project?
It has helped determine the order of bases in the human genome as well as the identification of some jeans and sequencing and mapping this information enable scientist to scan a patient’s DNA sample for mutated sequences and also to compare the sequence of DNA bases in a patient’s gene to a normal version of the gene.
What form of sequencing did the human genome project use?
Sanger sequencing which sequences relatively small sections of DNA at a time.
What was the 100K genome project purpose?
To improve the knowledge and understanding of genetic disorders and enable healthcare to be improved by
- more accurate diagnosis
- better prediction of the effect of drugs and improved design drugs
- new and improved treatments for disease.
What did the 100 K project involve?
Do you know names from patients with cancer/rare diseases and members of the family. Before the genome was sequenced they had to give formed consent.
What sequencing was used in the 100K project?
Next generation sequencing
What are some advantages of using NGS?
It is efficient as it can sequence an entire genome in just a few hours. It enabled scientists to study variation within the human genome. And it could possibly tailor therapies to individuals for a common disease.
What moral and ethical concerns are there with sequencing your genome?
- Ownership of the information
- Misuse of the data i.e insurance
- Social discrimination against certain ancestry
- Social stigmatisation
Why is the identification of allele sequences are concern?
As DNA could be scanned for mutated sequences which could correlate with future health problems some wish not to have this knowledge but the health problem could affect relatives so must be clear whether or not relatives have the right to information.
What have been genetically screamed to detect the presence of disorders and give examples of some disorders?
Embryos have been genetically screened to detect the presence of disorders i.e CF, Huntington’s disease and thalassaemia.
What is genetic counselling?
It’s when patients meet up with a genetic counsellor on several occasions with a few weeks between each session to allow individuals to think about the consequences of finding out results.
What are the concerns for parents screening children for known diseases?
Some adults wish to screen their child for adult diseases such as Alzheimers and breast/ovarian cancer. Does the parent have the right to keep this info from the child?
What has embryonic screening led to?
Concerns of choosing alleles to ensure specific characteristics.
What do they discuss in genetic counselling?
The number of people with the condition out of the general population.
Whether parents are closely related.
Whether each parent has a history of the condition.
Inheritance of the disease.
Symptoms and treatment.
Life expectancy
How does identifying genomes help with classification?
It enables you to identify close evolutionary relationships and provide a true phylogenetic classification. It could help with conservation of species in the future.
How is malaria trying to be controlled?
Through sequencing the mosquito and the plasmodium parasite that it transmits. Trying to develop chemicals which prevent transmission of malaria.
How was the mosquito modified to prevent the spread of infection?
Genetically modified mosquitoes was produced using technology which allows genes to be written into the genome. Mosquito eggs were modified with genes which would help the synthesis of antibodies against the Plasmodium. The Plasmodium would not survive in the mosquito, meaning a mosquito couldn’t spread the infection.
How is the parasite killed?
Quinine disrupts the plasmodium’s digestion of haemoglobin in red blood cells are toxic to riveted of haemoglobin accumulate and kills the plasmodium.
How has the Plasmodium become resistant to drugs?
Through spontaneous mutations. Some drugs only require one point of mutation to gain resistance what others require more than one.
How does chloroquinine affect the plasmodium
It disrupts the digestion of haemoglobin in the Plasmodium food vacuole. Mutant Plasmodium expelled Chloroquinine from its food vacuole 50 times faster than normal Plasmodium so there’s not enough time for the drug to have an effect.
What is artimesinin?
A drug which acts at the RBC
What has caused difficulty with the eradication of malaria?
Rapid resistance to insecticide
How has sequencing genomes for malaria helped?
It has meant chemicals can be developed, resulting in mosquitoes being susceptible once again to malaria.
How has sequencing Plasmodium sp been beneficial?
it has developed multi drug resistance, so it’s allowing the development of more effective drugs.
How has genetic engineering helped?
It has allowed genes to be manipulated altered and transferred from one organism or species to another.
What are the applications of genetic engineering?
Transfer of genes into bacteria to make useful proteins i.e. insulin.
Transfer of genes into plants and animals so they acquire new characteristics i.e. resistant to diseases. Transfer of genes to humans to reduce the effect of genetic diseases.
What is the recombinant DNA
When genetic material of two species is combined. It is formed when a piece of foreign DNA is incorporated into the circular DNA (plasmid) from a bacterium.
What are transgenic organisms
Organisms which have DNA from other species introduced into their cells
What is the organism called which has been introduced to the DNA
The host
What is it called when a cell has incorporated a plasmid containing a foreign gene?
Transformed
What are the steps of genetic engineering?
- isolation of the gene fragments
- insertion of the DNA fragment into the vector
- vector carries the gene into a suitable host cell
- recipient expresses gene through protein synthesis
- identification of the host cell taking up the gene using gene markers
- cloning the transformed host cell
How can a gene be identified
Using a gene probe
What are restriction enzymes?
They cut the DNA at particular sites into fragments, these form complementary base pairing. The same enzyme should be used when cutting the plasmid/vector to ensure complementary sticky ends. Hydrolyses the sugar phosphate backbone
Why is DNA ligase used?
To anneal the sticky ends together. Binds the sugar phosphate backbone and the plasmid.
What are the human DNA fragments mixed with?
Open plasmids the gene and plasma sticky ends form complementary base pairs and DNA ligase joins together to form recombinant DNA
What are the problems with using restriction enzymes?
Difficult to locate the required gene.
The recognition sequence occurs within the gene of interest the gene will be broken into fragments with no function.
It’s recognition sequence is too far from the start of the gene DNA will contain entrance which the bacteria you’re transferring the chain cannot recognise or cut out.
What is reverse transcriptase?
It’s an enzyme which produces DNA from an RNA template. The enzymes synthesises DNA called cDNA which is complimentary to the mRNA.
What happens to the mRNA when reverse transcriptase is used?
It’s converted into a single DNA strand by reverse transcriptase. DNA polymerase then converts a single strand to a double strand of DNA (cDNA) for pulling into a plasmid.
Producing cDNA overcomes what problems?
Locating the gene.
Restriction enzymes cutting the gene into non-functional fragments.
The presence of introns.
The need for post transcriptional processing to produce functional mRNA.
Why must a vector be used?
To carry the gene into a bacterial cell i.e. a plasmid.
How are plasmids isolated?
The bacteria containing them are treated with
EDTA to destabilise the cell wall.
Detergent to dissolve the phospholipid cell membrane.
NaOH denatures the membrane proteins.
What should a good vector be?
Self replicating
small
not be broken by host cell enzymes
not stimulate an immune response
be able to be screened to confirm that the gene has actually been inserted into the plasmid
have markers to allow cells that have been successfully taken up the gene to be identified.
How can uptake of plasmid DNA be increased?
Through CaCl2 Heat shocking (chilled to 4 and then heated to 42)
What are the 3 types of bacteria which can be formed when making a recombinant DNA?
Bacteria which isn’t transformed
Bacteria which has taken up the plasmid without donor DNA (resealed with DNA ligase)
Bacteria which has taken up the recombination plasmid
What is a marker gene?
Plasma gene for antibiotic resistance. You can use these to identify the bacteria which contains the recombinant plasmid.