Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation, occurring approximately once every 1,000 base pairs in the human genome. SNPs are responsible for the vast majority of phenotypic differences between individuals, including susceptibility to disease, response to drugs, and physical traits. The ability to accurately and efficiently identify SNPs is therefore critical for a wide range of applications, including genotyping, pharmacogenomics, disease diagnostics, forensic science, and agriculture.
Mass spectrometry (MS) is a powerful analytical technique that has emerged as a leading method for SNP identification. MS offers several advantages over traditional SNP genotyping methods, such as high accuracy, sensitivity, and throughput. In this article, we will provide a comprehensive overview of MS for SNP identification, including its technical principles, features, classifications, applications, and environmental benefits.
Fig 1. Mass spectrometry for genotyping (Peta E., 2000)
Service Overview
Our company offers a comprehensive suite of MS-based SNP identification services. We utilize state-of-the-art MS instrumentation and cutting-edge methodologies to provide our clients with accurate, reliable, and cost-effective SNP genotyping solutions. Our services are tailored to meet the specific needs of each client, and we offer a variety of options to accommodate different project requirements.
Technological Principles
MS is an analytical technique that measures the mass-to-charge ratio of ions. In the context of SNP identification, MS is used to determine the mass of DNA fragments that differ by a single nucleotide. The basic principle of MS-based SNP identification is as follows:
- DNA Extraction: DNA is isolated from the sample of interest (e.g., blood, tissue).
- PCR Amplification: The region of DNA containing the SNP is amplified using polymerase chain reaction (PCR).
- Primer Extension: A primer is designed to anneal to the DNA sequence immediately adjacent to the SNP. A single base extension reaction is performed using modified nucleotides (dideoxynucleotides) that terminate the extension reaction. The type of nucleotide added depends on the SNP present.
- Mass Spectrometry Analysis: The extended primer products are analyzed by MS. The mass of the extended primer product is precisely determined, and the difference in mass between the different extended primers indicates the SNP allele present.
- Data Analysis: The MS data is analyzed to identify the different alleles present in the sample. The genotypes of the individuals in the sample are then determined based on the identified alleles.
Technical Features
MS-based SNP identification offers several advantages over traditional SNP genotyping methods:
- High Accuracy: MS provides accurate mass measurements, leading to precise SNP identification.
- High Throughput: MS can analyze many samples simultaneously, making it suitable for large-scale studies.
- Sensitivity: MS can detect SNPs even in low concentrations of DNA.
- Multiplexing: Multiple SNPs can be analyzed in a single reaction, saving time and resources.
Technical Classifications
There are two main types of MS-based SNP identification methods:
- Matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) MS
- Electrospray ionization (ESI) MS
MALDI-TOF MS is the most commonly used method for SNP identification. It is a relatively simple and cost-effective technique that offers high throughput and sensitivity. ESI MS is a more complex and expensive technique that offers higher accuracy and resolution..
Application Areas
MS-based SNP identification has a wide range of applications, including:
- Genotyping: Determining the genetic makeup of individuals for various purposes.
- Pharmacogenomics: Identifying SNPs that influence drug response.
- Disease Diagnostics: Detecting SNPs associated with genetic diseases.
- Forensic Science: Analyzing DNA samples for forensic investigations.
- Agriculture: Identifying SNPs in crops and livestock for breeding programs.
Environmental Benefits
MS-based SNP identification is an environmentally friendly technique. It does not require the use of hazardous chemicals or radioactive isotopes. In addition, MS is a relatively energy-efficient technique.
Our Services
At our bio-environmental company, we specialize in providing cutting-edge mass spectrometry method services for the analysis of Single Nucleotide Polymorphisms (SNPs). Our services are designed to meet the precise needs of molecular marker research and are as follows:
- Genotyping and Mutation Detection: We offer high-throughput genotyping services that can accurately detect SNPs and mutations, providing crucial data for genetic studies and molecular marker identification.
- Ultrasensitive Detection: Our Mass Spectrometry Method is capable of detecting genetic variations with high sensitivity, making it ideal for research requiring the detection of rare alleles.
- Methylation Analysis: We provide services for the analysis of DNA methylation patterns, which are vital for understanding gene regulation and expression.
- Variety Identification: Our services extend to the identification of genetic varieties in various organisms, supporting research in agriculture, conservation, and biodiversity.
- Functional Panel Customization: We design and implement customized SNP panels tailored to specific research needs, allowing for targeted analysis of functionally relevant genetic variations.
- Pharmacogenomics Research: Our services are instrumental in pharmacogenomics, aiding in the understanding of how genetic variations affect drug response and efficacy.
- Biomarker Validation: We validate biomarkers associated with specific diseases or conditions, contributing to the development of personalized medicine.
Distinctive Service Features
- High Accuracy and Reproducibility: Our SNP genotyping detection results can achieve accuracy and reproducibility rates above 99%, ensuring reliable data for your research.
- High-Throughput Capabilities: We can process a large number of samples in a single run, with the capacity ranging from 192 to 768 samples depending on the chip format used.
- State-of-the-Art Technology: We employ the latest MALDI-TOF MS instruments equipped with delayed extraction, which greatly improves resolution in DNA analysis and allows for the differentiation of SNPs contained in PCR products.
- Flexibility and Customization: Our assay design is simple, flexible, and automated, allowing for the design of a vast number of assays with universal reaction conditions.
Contact Us
By leveraging the power of mass spectrometry method, our company is committed to delivering high-quality, reliable, and innovative services for SNP analysis, molecular marker research, and beyond. Please contact us and confirm with our team for more information.
How to Place an Order
Reference
- Peta E., Peter F., et al. "Mass spectrometry for genotyping: an emerging tool for molecular medicine" Molecular Medicine Today 2000, 6(7):271-276.
Our products and services are for research use only and cannot be used for any clinical purposes.
Mass Spectrometry Method
