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Recombinant DNA technology. First technical breakthrough in medical genetics was chromosome analysis in 1950sSecond is recombinant DNA, in the 1970s - 1990sThis will culminate in the complete DNA sequence of humans (the Human Genome Project)There are now many methods available to analyse patients
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1. Lecture 44 Prof Duncan Shaw
2. Recombinant DNA technology First technical breakthrough in medical genetics was chromosome analysis in 1950s
Second is recombinant DNA, in the 1970s - 1990s
This will culminate in the complete DNA sequence of humans (the Human Genome Project)
There are now many methods available to analyse patients’ DNA in the lab, to identify mutations, to discover new genes, etc.
3. How to purify a gene First method is by “cloning”, i.e. introduce the gene into a bacterial cell then grow up large amounts and extract DNA (in vivo)
Second method is by “polymerase chain reaction” (PCR) using DNA polymerase to amplify the gene in a test-tube (in vitro)
Both methods have their uses but PCR is preferred in medical applications because it is quicker and cheaper
4. Bacteria provide the means Bacteria have been vital in developing DNA technology
Thermus aquaticus (which lives in hot springs) provides DNA polymerase enzyme for PCR
Escherichia coli (which lives in our guts) provides “plasmids” (mini-chromosomes) used in cloning
100s of bacterial species provide “restriction enzymes” that cut DNA at specific sequences of bases (4 - 8 bases long)
5. Applications In biomedical research - to identify the genes responsible for human characteristics (including disease)
To analyse what goes wrong with these genes in disease (pathology)
To provide prenatal and presymptomatic diagnosis, carrier detection, risk calculation
New therapies (drugs, gene therapy)