Application of Reproduction and Genetics. Flashcards
What were the aims of the human genome project?
Identify all the genes in the human genome and identify which chromosome each is on.
Determine the sequence of all base pairs in human DNA.
Store the information on a database.
Consider ethical, social ad legal issues that arise.
What were the findings of the human genome project?
Humans have around 20,500 genes.
There are more repeated segments of DNA than had been suspected.
Fewer than 7% of the families of proteins were specific to vertebrates.
What are the applications of the human genome project?
Scan for mutations.
Carrier screening.
Pre-natal testing.
Newborn screening.
Screening for adult onset disorders.
Forensic and identity testing.
What did the 100k project aim to do?
Create an ethical, transparent programme based on consent.
Set up a genomic service for the NHS to benefit patients.
Enable medical and scientific discovery.
Develop a UK genomics industry.
What moral/ethical concerns are there regarding the human genome and 100k genome project?
Who owns the genetic information?
Some people don’t wish to have information on future health problems that they may have.
Concerns over the idea of ‘designer babies’.
Storage and security of genomic data is a concern because of the potential for computer storage to be hacked.
Why was the DNA sequencing of the female anopheles mosquito done?
So It can be used to try to develop chemicals that can prevent the mosquito from transmitting malaria by making it susceptible to insecticides.
Why is a genetic fingerprint not the same as DNA sequence?
Because it represent only non-coding portions of DNA.
What 2 techniques does genetic fingerprinting rely on?
The polymerase chain reaction to make large numbers of copies of DNA fragments.
Gel electrophoresis, to separate DNA fragments based on their size.
They’re Short Tandem Repeats, these are sequences of nucleotides within an intron.
What is PCR?
It is semi-conservative replication of DNA in a test tube and it greatly amplifies the quantity of DNA.
In PCR, what is the DNA sample mixed with?
Taq polymerase (DNA polymerase with an optimum of 80’c).
Nucleotides containing the 4 DNA bases.
Primers, which bind to the start signalling taq to start replication.
What is a primer?
A strand of DNA about 10 nucleotides long that base pairs with the end of another longer strand, making a double-stranded section, to which DNA polymerase may attach prior to replication.
What device does PCR occur in?
A Thermocycler.
What are the stages of PCR?
Original DNA is heated to 95’c separating it into 2 strands.
Solution cooled to 55’c for the primers to anneal to the complementary base sequences.
Solution hated to 70’c and taq catalyses the synthesis of a complementary strand by adding complementary nucleotides and catalysing sugar-phosphate backbone.
Sequence repeated multiple times.
