Clinical application of nanopore sequencing for haplotype linkage analysis in preimplantation genetic testing for Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe X-linked disorder affecting approximately 1 in 5,000 newborn boys, due to mutations in the DMD gene. Preimplantation genetic testing for monogenic disorders (PGT-M) can prevent parents from passing on DMD to their offspring. In specific cases, such as those involving de novo mutations on incomplete pedigrees, second-generation sequencing (SGS) alone cannot provide answers. Here, the researchers demonstrated how Oxford Nanopore sequencing enables precise haplotype linkage analysis for preimplantation genetic testing, far beyond the limitations of short-read technologies. In the future, this could empower families affected by DMD to identify and transfer healthy embryos.
‘This work highlights the value and practicality of using nanopore sequencing in the PGT-M for DMD, particularly for families unable to obtain haplotype analysis using SGS-based methods’
Xia et al. 2025
Sample type: DNA from peripheral blood
