Ontology highlight
ABSTRACT:
SUBMITTER: Chamayou S
PROVIDER: S-EPMC7000499 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Chamayou Sandrine S Sicali Maria M Lombardo Debora D Alecci Carmelita C Ragolia Carmen C Maglia Elena E Liprino Annalisa A Cardea Clementina C Storaci Giorgia G Romano Simona S Guglielmino Antonino A
Journal of assisted reproduction and genetics 20191211 1
<h4>Purpose</h4>We developed and applied a universal strategy for preimplantation genetic testing for all cystic fibrosis gene mutations (PGT-CF) based on next-generation sequencing (NGS).<h4>Methods</h4>A molecular protocol was designed to diagnose all CF mutations at preimplantation stage. The detection of CF mutations was performed by direct gene sequencing and linkage strategy testing 38 specific SNPs located upstream and inside the gene for PGT-CF. Seventeen couples at risk of CF transmissi ...[more]