SNP Genotyping Technologies

Importance of SNPs

• SNPs (Single Nucleotide Polymorphisms) refer to variations at a specific nucleotide position in the genome.

• They are crucial for genetic diversity, occurring approximately every 1 in 1,000 base pairs.

• SNPs influence phenotypic variation, disease development, drug response, and environmental adaptations.

• They serve as molecular markers for identifying genes linked to biological traits and diseases.

SNP Genotyping Overview

• SNP genotyping involves determining SNP loci across the genome or specific regions.

• Key applications: disease treatment, pharmacogenomics.

• Two main categories: Whole Genome Association Studies & Fine Mapping.

• Common genotyping platforms: SNP microarrays, Tokman, MassArray, and Next Generation Sequencing (NGS).

SNP Genotyping Technologies

Conventional Microarrays

• Major commercial arrays: Affymetrix and Illumina platforms.

• These solutions are used for precise medical applications, agricultural genotyping, and large-scale studies.

• High-density SNP chips provide coverage for the human genome and economically significant species.

Tokman SNP Genotyping

• Offers a rapid analysis method with over 17 million pre-designed collections for real-time PCR formats.

• Allows for custom assays and utilizes dual-labeled probes for specificity.

• Fluorescent signal detection during PCR helps determine genotype through exonuclease activity.

MassArray SNP Genotyping

• Analyzes multiple SNPs in a single reaction, cost-effective for large datasets.

• Uses a single extension primer and MALDI TOF mass spectrometry for detection of allele-specific products.

SNP Analysis via NGS

• Involves sequencing specific DNA products from chosen genomic regions.

• Cost reductions have made NGS widely accessible, with techniques like genotyping by sequencing gaining traction.

Conclusion

For further details about SNP genotyping services, visit www.cdgenomics.com.