The application of SNP scoring using a chip-based mass spectrometric approach is proposed for high throughput analysis of large DNA banks. The simplicity of the applied biochemical methods combined with high accuracy of separation and detection of mass spectrometry will result in reliable and cost-effective genotyping of tens of thousands of individual samples. The entire analytical process is amenable to complete automation including data interpretation thus individually secure data sets are generated. Preliminary results clearly demonstrated that the methodology is nearly universally applicable to a wide variety of genetic alterations like single base substitutions, insertions, deletions. and even short tandem repeat polymorphisms. The proposed large scale evaluation and validation of the analytical system is performed using an already established population-based DNA bank that consists currently of more than 2000 individual samples. In this study. we will further develop and optimize chip-based mass spectrometry to the ultimately inexpensive genetic profiling tool. We expect this development will provide the superior SNP scoring technology over currently available concerning accuracy, reliability. reproducibility. cost, and throughput.
The need for less expensive, reliable, and accurate SNP scoring techniques of large DNA sample collections is immense and so there is a large market potential for the proposed strategy using chip-based mass spectrometry. In addition, the collected population-based DNA bank sorted according to sex, age, and ethnicity is expected to provide valuable information about SNPs associated to mortality/morbidity or longevity of the investigated population. Supposing the proof of principle, this DNA bank is of enormous value for the characterization of genetic markers.
