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What are the potential benefits for society of research using genetic…
What are the potential benefits for society of research using genetic technologies?
cystic fibrosis
caused by a faulty gene that affects the production of the CFTR protein
class of mutation
CFTR production stops - short
CTFR forms incorrectly and gets stuck in the endoplasmic reticulum - cannot reach the membrane
CFTR arrives at membrane but is unable to be transported
ion channel is misshaped and doesnt work - chloride cannot move in and out of cells
production is decreased
what is the mutation?
point mutation
A change to a single base pair of DNA, only affecting a single gene (single nucleotide variation)
germline mutation
any detectable variation within germ cells (cells that, when fully developed, become sperm and ovum).
the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote.
technologies
PCR
Polymerase chain reaction
used to 'amplify' small segments of DNA
fast and inexpensive
process
denaturation
annealing
elongation
used to amplify (copy) large
amounts of DNA, making it
available for other applications
gel electrophoresis
DNA profiling
fingerprinting
detecting bacteria and viruses
electrophoresis
Used to analyse genetic relationships.
familial
forensic investigation
evolutionary relationships
Agarose is used to make a gel matrix. As it sets, pores are created in the gel.
DNA is negatively charged - move towards the positive electrode
combined with a dye that fluoresces under UV light when bound to DNA
this allows us to visualise the DNA on the gel
Larger pieces (longer in length) lag behind - smaller pieces will be able to move faster and farther
DNA sequencing
the exact order of base pairs can be determined
inheritance patterns
one in 25 carry the CF gene
both parents must carry the faulty gene in order for their child to have CF
child can be born carrier
child can be born with CF
over 2000 known mutations that can cause CF
prenatal scanning can be conducted to find genetic disease
mutations
the gene is altered and is either unable to produce or direct the CFTR protein
genes instruct the body on how to produce proteins and where to send them
Gene therapy