Initial result of using preimplantation genetic diagnosis protocol for spinal muscular atrophy disease in the Military Medical University

Abstract

The preimplantation genetic diagnosis protocol for spinal muscular atrophy disease in the Military Medical University was built and applied successfully from 2/2015 to 11/2019. The study was carried out on 6 couples who are carriers of the disease. DNA of carriers were isolated from the whole blood. One or two blastomere(s) was/were biopsied from 3-day or 5-day embryos of these couples, and then the whole genome of biopsied blastomeres was duplicated. PCR-RFLP and minisequencing methods were performed to detect mutations and select unaffected embryos for transfer.