{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:33:23Z","timestamp":1787726003721,"version":"build-2784847793"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T00:00:00Z","timestamp":1605830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31870817"],"award-info":[{"award-number":["31870817"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81701443"],"award-info":[{"award-number":["81701443"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal dominant hereditary polycystic kidney disease (ADPKD) is the most common inherited kidney disease that causes end\u2010stage renal disease and kidney failure. Preimplantation genetic testing for monogenic (PGT\u2010M) can effectively prevent the transmission of genetic diseases from parents to the offspring before pregnancy. However, PGT\u2010M 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\u2010M strategy using single sperm SNP linkage analysis for male patient with sporadic ADPKD caused by <jats:italic>de novo PKD1<\/jats:italic> mutation. We recruited five couples with male patient with ADPKD caused by <jats:italic>de novo PKD1<\/jats:italic> mutation, and 39 embryos from six PGT\u2010M cycles were detected. The five couples had at least one embryo that does not carry the <jats:italic>PKD1<\/jats:italic> 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\u2010M strategy of using single sperm SNP linkage analysis was proved to be feasible and effective for male patient with ADPKD caused by <jats:italic>de novo PKD1<\/jats:italic> mutation.<\/jats:p>","DOI":"10.1111\/cge.13871","type":"journal-article","created":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T04:11:13Z","timestamp":1603858273000},"page":"250-258","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by <i>de novo<\/i><scp><i>PKD1<\/i><\/scp> mutation"],"prefix":"10.1111","volume":"99","author":[{"given":"Hao","family":"Shi","sequence":"first","affiliation":[{"name":"Center for Reproductive Medicine The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Key Laboratory of Reproduction and Genetics The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenbin","family":"Niu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Key Laboratory of Reproduction and Genetics The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yidong","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Key Laboratory of Reproduction and Genetics The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haixia","family":"Jin","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Key Laboratory of Reproduction and Genetics The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyan","family":"Song","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Key Laboratory of Reproduction and Genetics The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Senlin","family":"Shi","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Key Laboratory of Reproduction and Genetics The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guidong","family":"Yao","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Key Laboratory of Reproduction and Genetics The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4336-7972","authenticated-orcid":false,"given":"Jiawei","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine The First Affiliated 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