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Detection of blood group genes using multiplex SNaPshot method
Poonsub Palacajornsuk1, Christine Halter, Victoria Isakova
1New York Blood Center, 310 East 67th Street, New York, NY 10065, USA.
Transfusion
|January 28, 2009
Summary
The SNaPshot method accurately detects single-nucleotide polymorphisms (SNPs) in blood group genes, offering a fast and cost-effective DNA-based alternative for blood group determination in transfusion medicine.
Area of Science:
- Genetics
- Molecular Biology
- Transfusion Medicine
Background:
- Accurate blood group antigen determination is crucial for transfusion medicine.
- Blood group antigens are inherited and polymorphic, often due to single-nucleotide polymorphisms (SNPs).
- Existing DNA-based assays for studying blood group gene variants include PCR and microchips.
Purpose of the Study:
- To adapt the SNaPshot method for detecting SNPs in 10 common blood group systems.
- To evaluate the accuracy and reproducibility of the multiplex SNaPshot assay for blood group genotyping.
Main Methods:
- Multiplex PCR amplified DNA regions of interest.
- Oligonucleotide probe primers were annealed, and primers were extended with fluorescent ddNTPs.
- Capillary electrophoresis on a genetic analyzer and computer software analyzed the results.
Main Results:
- The multiplex SNaPshot assay accurately predicted 17 SNP sites in 29 blood samples.
- Results showed high accuracy and reproducibility when compared to previous phenotyping and genotyping.
- Both homozygous and heterozygous blood groups were reliably detected.
Conclusions:
- The SNaPshot method provides a practical, DNA-based alternative to antibody-dependent phenotype prediction.
- This method offers a rapid turnaround time of 24 hours.
- The mean reagent cost is approximately $2 per SNP detected, making it cost-effective.
