Clinical application of nanopore sequencing for haplotype linkage analysis in preimplantation genetic testing for Duchenne muscular dystrophy.

ABSTRACT: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive muscular dystrophy, ultimately leading to paralysis and death from cardiac failure and/or respiratory insufficiency. Preimplantation genetic testing for monogenic disorders (PGT-M) has proven effective in helping families with complete pedigrees carrying DMD mutations to produce unaffected offspring. This study was designed to evaluate the feasibility of using nanopore sequencing as an effective PGT-M technique for DMD, particularly in cases involving de novo mutations or incomplete pedigrees that cannot be analyzed using second-generation sequencing (SGS) alone. Nanopore sequencing was performed on two DMD female carriers. The precise breakpoints of the DMD mutations were detected with nanopor

SUBMITTER: Xia Q 

PROVIDER: S-EPMC12368176 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature