{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:13:05Z","timestamp":1787242385669,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Nucleic acid\u2010based assays provide an opportunity to screen for genetically encoded diseases like spinal muscular atrophy (SMA), before the onset of symptoms. Nowadays, such assays could be easily utilized as high\u2010throughputs in SMA to detect a homozygous deletion of exon 7 of the survival motor neuron 1 gene (\n                      <jats:italic>SMN1<\/jats:italic>\n                      ) that is responsible for &gt;95% of SMA patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We developed a new line method (NLM) as a direct real time PCR test procedure without nucleic acid extraction in dried blood spots (DBS) to screen for homozygous deletion of exon 7 of the\n                      <jats:italic>SMN1<\/jats:italic>\n                      gene. Performance of this setup was evaluated on 580 DBS newborn samples and air dried 50 DBS from whole blood including 20 samples for homozygous deletion of the\n                      <jats:italic>SMN1<\/jats:italic>\n                      gene detected earlier with MLPA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We found all 580 newborn DBS samples as wild type. DBS prepared from 50 whole blood samples also including 20 affected people were correctly identified as homozygous deletions and 30 wild types of exon 7 of\n                      <jats:italic>SMN1<\/jats:italic>\n                      as before with MLPA. When the MLPA method was taken as the gold standard, the sensitivity and specificity of the NLM test were found 100% for the detection of\n                      <jats:italic>SMN1<\/jats:italic>\n                      exon 7 homozygous deletion.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In the NLM, the total test duration has been reduced to less than 75\u2009min without requiring any extra process such as DNA extraction step and sample plate preparation after the punching step. Thereby, newborn SMA screening with the NLM has gained an environmentally friendly feature with not requiring additional tedious steps.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.2270","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T02:34:51Z","timestamp":1692844491000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A new line method; A direct test in spinal muscular atrophy screening for DBS"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0740-3497","authenticated-orcid":false,"given":"Ayhan","family":"Kubar","sequence":"first","affiliation":[{"name":"SNP Biotechnology Ltd.  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sehime G\u00fcls\u00fcm","family":"Temel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Bursa Uludag University  Bursa Turkey"},{"name":"Department of Translational Medicine, Institute of Health Sciences Bursa Uludag University  Bursa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdar","family":"Beken","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine Acibadem Mehmet Ali Ayd\u0131nlar University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gizem","family":"Onder","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Institute of of Health Sciences Acibadem Mehmet Ali Ayd\u0131nlar University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozden","family":"Hatirnaz","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences, Medical Biology, School of Medicine Acibadem Mehmet Ali Ayd\u0131nlar University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse","family":"Korkmaz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine Acibadem Mehmet Ali Ayd\u0131nlar University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine Acibadem Mehmet Ali Ayd\u0131nlar University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugur","family":"Ozbek","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Medical Genetics, School of Medicine Acibadem Mehmet Ali Ayd\u0131nlar University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebnem Ozemri","family":"Sag","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Bursa Uludag University  Bursa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmut Cerkez","family":"Ergoren","sequence":"additional","affiliation":[{"name":"Near East University  Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif","family":"Kubar","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine Department of Medical Genetics  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candan Zeynep","family":"Sonmezalp","sequence":"additional","affiliation":[{"name":"SNP Biotechnology Ltd.  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozlem","family":"Do\u011fan","sequence":"additional","affiliation":[{"name":"SNP Biotechnology Ltd.  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2020.0085"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0476-4"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.004"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066969"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2015.07.004"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.84"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305672"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1710504"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.005"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2015.03.006"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.689"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns5040041"},{"issue":"3","key":"e_1_2_11_14_1","first-page":"95","article-title":"Newborn screening for spinal muscular atrophy: DNA preparation from dried blood spot and DNA polymerase selection in PCR","volume":"65","author":"Takeuchi A.","year":"2019","journal-title":"The Kobe Journal of Medical Sciences"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12101621"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2020.0312"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2270","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T02:38:55Z","timestamp":1720233535000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2270"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,23]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/mgg3.2270"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2270","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,23]]},"assertion":[{"value":"2023-05-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2270"}}