Related Experiment Video
Updated: Jun 22, 2026
08:35
Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
Published on: July 17, 2021
Pharmacogenetic testing after a simple DNA isolation method on buccal swab samples
Petal A H M Wijnen1, Marjolein Drent, Marja P van Dieijen-Visser
1Maastricht University Medical Centre, PO Box 5800, 6202 AZ, Maastricht, The Netherlands.
Pharmacogenomics
|June 18, 2009
Summary
DNA isolation from buccal swab (BS) samples using a dried blood spot (DBS) method yielded high-quality DNA. This noninvasive buccal swab sampling is a viable alternative to invasive methods for genetic analysis.
Area of Science:
- Molecular Biology
- Genetics
Background:
- DNA isolation is crucial for genetic analysis.
- Noninvasive sampling methods are preferred for ease and patient comfort.
Purpose of the Study:
- To assess the suitability of a dried blood spot (DBS) DNA isolation method for noninvasively obtained buccal swab (BS) samples.
- To evaluate both the quantity and quality of DNA extracted from BS samples.
Main Methods:
- DNA was isolated from both DBS and BS samples collected from 25 healthy volunteers.
- DNA quantity was measured, and melting curve analyses were performed to assess DNA quality.
Main Results:
- Melting curves for DNA from both DBS and BS samples were comparable and reproducible.
- Mean DNA concentration was significantly higher in BS samples (70.2 ng/microl) compared to DBS samples (16.0 ng/microl).
Conclusions:
- The DBS DNA isolation method is effective for genotype discrimination.
- Noninvasive buccal swab sampling offers a practical and advantageous alternative to invasive methods for DNA isolation.
Related Concept Videos
01:24DNA Isolation
DNA isolation protocols can be fast and straightforward or complex and time-consuming depending on the type and quality of DNA required for further processing. For example, plasmid DNA extraction is a bit more complicated than genomic DNA extraction because of the need for an appropriate lysis method to separate plasmid DNA from gDNA during isolation. However, for specific applications, such as long-range DNA sequencing that require a good yield of high- quality DNA samples, we need to follow...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:28Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...