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