Journal
CLINICAL GENETICS
Volume 99, Issue 2, Pages 250-258Publisher
WILEY
DOI: 10.1111/cge.13871
Keywords
ADPKD; linkage analysis; PGT‐ M; single nucleotide polymorphism; single sperm
Categories
Funding
- Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center
- Joint Construction Project of the Key Project of Medical Science and Technology of Henan Province of China
- National Key R&D Program of China [2019YFA0110900, 2019YFA0802200]
- National Natural Science Foundation of China [31870817, 81701443]
- Scientific and Technological Innovation Talent Project of Universities of Henan Province [20HASTIT045]
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The new PGT-M strategy of using single sperm SNP linkage analysis has been shown to be feasible and effective for male patients with ADPKD caused by de novo PKD1 mutation.
Autosomal dominant hereditary polycystic kidney disease (ADPKD) is the most common inherited kidney disease that causes end-stage renal disease and kidney failure. Preimplantation genetic testing for monogenic (PGT-M) can effectively prevent the transmission of genetic diseases from parents to the offspring before pregnancy. However, PGT-M currently adopts the single nucleotide polymorphism (SNP) linkage analysis for embryo's pathogenic gene carrying status and linkage analysis requires proband of the family. Here we report a new PGT-M strategy using single sperm SNP linkage analysis for male patient with sporadic ADPKD caused by de novo PKD1 mutation. We recruited five couples with male patient with ADPKD caused by de novo PKD1 mutation, and 39 embryos from six PGT-M cycles were detected. The five couples had at least one embryo that does not carry the PKD1 mutation. Within these five couples, the accuracy of carrier status of embryos was confirmed by amniotic fluid gene detection of two couples and two couples successfully delivered healthy fetuses. Therefore, the new PGT-M strategy of using single sperm SNP linkage analysis was proved to be feasible and effective for male patient with ADPKD caused by de novo PKD1 mutation.
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