Biotechnology 2 Flashcards
What is a genetic disease?
One that is caused by a defect in a specific gene, with individuals carrying the defective gene being predisposed towards developing the disease at some stage of their lives.
Why are a greater percentage of the population now dying from diseases with a genetic component rather than infectious components?
MAny infectious diseases are now controlled by antibiotics and vaccines, whereas this cannot be done with genetic diseases.
Why would we want to identify genetic diseases?
Screening programmes can be introduced to identify carriers early, give counselling about the probability of children inheriting a gene/disease and allowing treatments and precautions to reduce risk.
How can you identify a disease gene?
Pedigree analysis - genetic mapping.
What does genetic mapping involve?
Analysing linkage of the gene. Linked genes are inherited as one unit as must be close together on a chromosome. If they are on different chromosomes, random segregation will result in different inheritance patterns. If they are on the same chromosome but not close together, recombination events will eventually unlink them.
What is an example of a gene in humans that was found using Southern Blotting?
RFLP (restriction fragment length polymorphism) D17S74 on the long arm of chromosome 17 found in women with breast cancer.
How could this gene be found?
FIne scale mapping of short tandem repeats. It was examined with PCR with primers that annealed either side of the STR. The size of the product is looked at.
What is gene therapy?
The introduction of a cloned gene into a patient in attempt to cure any disease.
What is germline therapy?
The introduction of the correct gene into a fertilised egg and reimplanting into the mother.
What is somatic therapy?
Manipulation of cells by transfection and reintroduction into the body.
