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Method for genotyping of single nucleotide polymorphism.

Short Description A new assay for genotyping of single nucleotide polymorphisms has been developed, which can overcome the key problems associated with the currently used mini-sequencing methods.
Abstract A new MALDI-TOF based mini-sequencing assay termed VSET was developed for genotyping of SNPs. In this assay, specific fragments of genomic DNA containing the SNP site(s) are first amplified, followed by mini-sequencing in the presence of three ddNTPs and the fourth nucleotide in the deoxy form. In this way, the primer is extended by only one base from one allele, while it is typically extended by two bases from another allele. The products are then analyzed using MALDI-TOF mass spectrometry. The genotype of the SNP site is identified based on the number of nucleotides added.
Inventor(s) Dr. Baochuan Guo, Ph.D. Professor, Department of Chemistry.
Commercial Applications
  • Providing high-throughput, low-cost, accurate method for genotyping of single nucleotide polymorphisms (SNPs).
  • Significantly reduces the stringent high-resolution and extensive desalting requirements that are essential to the pinpoint assay.
  • Avoids the long extension problem associated with the PROBE assay.
IP Information 6,479,242
Related IP

Status Available
engaged learning
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Campus Location
Parker Hannifin Hall, 214
2258 Euclid Avenue
Cleveland, OH 44115
Phone: 216.687.5108
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