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Advances in Recombinant DNA Technology and Its Applications in Medical Genetics

This lecture by Prof. Duncan Shaw highlights the pivotal breakthroughs in medical genetics, focusing on recombinant DNA technology that emerged from chromosome analysis in the 1950s and developed further in the 1970s-1990s. Key methods for gene purification, including cloning and polymerase chain reaction (PCR), are discussed, emphasizing the advantages of PCR in medical settings. The role of bacteria in DNA technology is explored, alongside the numerous biomedical applications such as gene identification, disease analysis, and new therapy development.

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Advances in Recombinant DNA Technology and Its Applications in Medical Genetics

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Presentation Transcript

    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)

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