INVERSE MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION (IMLPA), AN IN VITRO METHOD OF GENOTYPING MULTIPLE INVERSIONS

摘要

It is described here a new method for improvement genotyping of a large number of inversions mediated by inverted repeats through a fast and high-throughput assay. The assay is based on Multiplex Ligation-dependent Probe Amplification, adapted for the detection of genomic structural variants, particularly adapted to inversions detection (iMLPA). By comparison with other techniques used to genotype inversions one by one, like inverse PCR, iMLPA has shown a very high sensibility, reproducibility and accuracy. Besides, iMLPA is the fastest method to determine the inversion genotypes in large sets of samples.