DNA Technology: PCR and Genetic Diversity

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Description

This lecture covers the application of DNA technology, focusing on PCR as a method to amplify DNA sequences. It explains the process of PCR, its significance in genetic analysis, and how it is used in forensic science. Additionally, it discusses genetic diversity between individuals, highlighting SNPs and microsatellites as key markers. The lecture also delves into the molecular mechanisms behind microsatellite variations and their analysis using PCR techniques. Furthermore, it explores the use of DNA profiling in paternity tests and forensic investigations, emphasizing the uniqueness of DNA profiles. Lastly, it touches on the detection of genetic disorders like trisomy 21 and the implications of maternal age on genetic conditions.

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https://mediaspace.epfl.ch/media/0_b75nxzxm

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A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance).

Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine.

The polymerase chain reaction (PCR) is a method widely used to make millions to billions of copies of a specific DNA sample rapidly, allowing scientists to amplify a very small sample of DNA (or a part of it) sufficiently to enable detailed study. PCR was invented in 1983 by American biochemist Kary Mullis at Cetus Corporation; Mullis and biochemist Michael Smith, who had developed other essential ways of manipulating DNA, were jointly awarded the Nobel Prize in Chemistry in 1993.

In genetics, a non-paternity event (also known as misattributed paternity, not parent expected, or NPE) is the situation in which someone who is presumed to be an individual's father is not in fact the biological father. This presumption of NPE is a subset of a misattributed parentage experience (MPE) which may be on the part of the individual, the parents, or the attending midwife, physician or nurse.

A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. They have a higher mutation rate than other areas of DNA leading to high genetic diversity. Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists.