Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy.

ABSTRACT:

Purpose

To determine whether next-generation sequencing (NGS) could be used to directly detect different mutations of Duchenne muscular dystrophy (DMD) during preimplantation genetic testing (PGT).

Methods

From Sep. 2016 to Aug. 2018, a total of six couples participated in this study. Four cases carried DMD exon deletions and two carried exon duplications. Trophectoderm cells were biopsied at day 5 or 6 and NGS was used in the genetic testing of the biopsied cells after whole-genome amplification. We developed a new method-DIRected Embryonic Cell Testing of Exon Deletion/Duplication (DIRECTED) to directly detect the single-gene mutation by NGS. Linage analysis based on single-nucleotide polymorphism (SNP) was used to validate the results from DIRECTED.

Results

In the

SUBMITTER: Ren Y 

PROVIDER: S-EPMC8417207 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature