{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T23:58:16Z","timestamp":1772755096753,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2001,6,20]],"date-time":"2001-06-20T00:00:00Z","timestamp":992995200000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Association Fran\u00e7aise contre les Myopathies (AFM)"},{"name":"Association Fran\u00e7aise de Lutte contre la Mucoviscidose (AFLM-VLM)","award":["Centre National de la Recherche Scientifique (CNRS)"],"award-info":[{"award-number":["Centre National de la Recherche Scientifique (CNRS)"]}]},{"name":"Association Fran\u00e7aise de Lutte contre la Mucoviscidose (AFLM-VLM)","award":["Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM)"],"award-info":[{"award-number":["Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM)"]}]},{"name":"Association Fran\u00e7aise de Lutte contre la Mucoviscidose (AFLM-VLM)","award":["H\u00f4pital Universitaire de Strasbourg"],"award-info":[{"award-number":["H\u00f4pital Universitaire de Strasbourg"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have developed a new allele\u2010specific amplification method for the preimplantation genetic diagnosis (PGD) of spinal muscular atrophy (SMA; Werdnig\u2010Hoffmann disease) from a single cell. This method is based on the detection of the deletion of exon 7 of the telomeric copy of the survival motor neurone (SMN<jats:sup>t<\/jats:sup>) gene. An oligonucleotide was designed to be specific to the SMN<jats:sup>t<\/jats:sup> nucleotidic sequence with exonic mismatch G (for SMN<jats:sup>t<\/jats:sup>)\u2192A (for SMN<jats:sup>c<\/jats:sup>) at its 3\u2032 end. This test produces reliable PCR products in 95% of single lymphoblasts (85\/88) tested as well as in 16\/16 blastomeres from normal controls. Specificity analysis showed that we were able to detect homozygous deletion of the SMN<jats:sup>t<\/jats:sup> gene in 99% of single lymphoblasts (103\/104) from a SMA patient. No contamination was detected in 68 blanks tested. Multiple cell and DNA dilution analysis revealed that the test is accurate and specific up to 100\u2009pg DNA and should thus also be suitable for PGD at the blastocyst stage. This rapid procedure requires a single round of fluorescent PCR and no restriction digestion, while previously described single cell methods include nested PCR followed by restriction enzyme digestion. Two PGD cycles for SMA using this procedure were performed in our centre. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.110","type":"journal-article","created":{"date-parts":[[2002,9,11]],"date-time":"2002-09-11T01:23:48Z","timestamp":1031707428000},"page":"498-503","source":"Crossref","is-referenced-by-count":28,"title":["Allele\u2010specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular 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