Model of Colorectal Cancer for Implementation of the HRMA Method for the Genetic Characterization of Human Pathologies

Abstract

Context: In developing countries and particularly in Sub-Saharan Africa, access to sequencing techniques is limited. In this context, it is necessary to adopt strategies that will allow researchers to work on molecular genetics and genomics and to allow the greatest number of people to benefit from a precision diagnosis that until now has been outsourced to laboratories in Western countries. The high-resolution curve analysis method (HRMA) for the detection of point mutations in diagnostic choices was evaluated here. Methodology and Results: Using genomic DNA from cell lines, the mutation detection sensitivity of the HRMA method was tested on samples containing different percentages of mutated DNA. The results obtained show that the HRMA method can discriminate wild-type samples from those containing a mutation, even for small amounts of mutated DNA in the sample. Conclusion: For the time being, systematic sequencing of all samples for research and diagnosis is a very expensive strategy in our context. The present evaluation allows to consider molecular genetic and genomic studies as well as molecular diagnosis in two steps: (i) screening of samples by the HRMA method; (ii) sequencing of samples containing a mutation by the Sanger method.