Seminario 11 Técnicas de Biología Molecular aplicadas a Entidades Monogénicas - Sebastián Giusti

Hello, how are you? In today's class we are going to analyze various molecular biology techniques that are used in the context of medical genetics and that aim to detect different allelic variants present in our genome. In the first part of the class we will focus on variants of the PCR technique and what it is to understand the

basis of this technique and its variations in different scenarios that may arise in the context of medical genetics. And in the second part we will analyze the techniques based on DNA sequencing. In both cases , the objective will be to understand, on the one hand, the molecular foundations of each of these techniques and also the

medical and clinical context in which these techniques become necessary, understanding in each case what information they provide in each of these contexts. Let's begin by reviewing what you've likely seen in previous classes, which are the fundamentals of the PCR technique, which stands for polymerase chain reaction. This technique was developed in the 1980s

by biochemist Carrie Mulis, who received the Nobel Prize in Chemistry in 1993 for it. It is a technique that allows the amplification of a specific segment of DNA from a complex mixture. Hm. It is therefore the reproduction of a chemical reaction where what occurs is the polymerization of nucleic acids. One aspect, one advantage of this technique

is that one can design the PCR technique to amplify a specific segment of the genome, even though what is used as the initial template is the total genomic DNA. Hm. And this technique can then, despite starting from a very extensive template, the total genomic DNA, for example, extracted from a sample of peripheral blood or other