{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T08:41:57Z","timestamp":1775032917137,"version":"3.50.1"},"reference-count":21,"publisher":"Scientific Scholar","content-domain":{"domain":["ijmr.org.in"],"crossmark-restriction":true},"short-container-title":["Indian J Med Res"],"abstract":"\n Background and objectives<\/jats:title>\n \n Spinal muscular atrophy (SMA) is an autosomal recessive disorder most often caused by homozygous deletion of exon 7 in the\n SMN1<\/jats:italic>\n gene. Current guidelines recommend initial testing of\n SMN1<\/jats:italic>\n exon 7, with additional analyses if no deletions are found. Commercial kits are typically probe-based; however, LNA (locked nucleic acid)-modified primers provide high sensitivity and specificity at lower cost. We aimed to develop an LNA-based assay for the diagnosis and screening of SMA.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Peripheral blood samples (2 mL) were collected from 31 patients diagnosed with SMA, 37 confirmed healthy controls, and 47 carrier parents between September and December 2021. 3\u2032 LNA-modified primers were designed for the\n SMN1<\/jats:italic>\n ,\n SMN2<\/jats:italic>\n , and\n \u03b2-actin<\/jats:italic>\n genes. For each PCR reaction, 20 ng of template DNA was used in a final volume of 20 \u00b5L. Products were validated by Sanger sequencing, and \u0394Ct values were compared with multiplex ligation-dependent probe amplification (MLPA).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The LNA primers for\n SMN1<\/jats:italic>\n ,\n SMN2<\/jats:italic>\n , and\n \u03b2-actin<\/jats:italic>\n were designed and optimised to amplify efficiently under uniform polymerase chain reaction (PCR) conditions. PCR results and \u0394Ct values were fully concordant with MLPA results.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation and conclusions<\/jats:title>\n \n Using only LNA-modified primers, we accurately detected\n SMN1<\/jats:italic>\n and\n SMN2<\/jats:italic>\n presence, absence, and copy numbers, without probes. This assay reliably identified both SMA patients and carriers, supporting its potential for diagnostic and screening purposes.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.25259\/ijmr_2408_2025","type":"journal-article","created":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T11:20:04Z","timestamp":1774351204000},"page":"194-201","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Locked nucleic acid (LNA) based PCR approach for the diagnosis and screening of spinal muscular atrophy"],"prefix":"10.25259","volume":"163","author":[{"given":"G\u00f6k\u00e7e G\u00fcll\u00fc","family":"Amuran","sequence":"first","affiliation":[{"name":"Department of Medical Biology, School of Medicine, Marmara University, Istanbul, Turkey"},{"name":"Institute of Health Sciences, Marmara University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00fc\u015fra","family":"Polat","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, School of Medicine, Marmara University, Istanbul, Turkey"},{"name":"Institute of Health Sciences, Marmara University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dil\u015fad","family":"T\u00fcrkdo\u011fan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, School of Medicine, Marmara University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olcay","family":"\u00dcnver","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, School of Medicine, Marmara University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Akkiprik","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, School of Medicine, Marmara University, Istanbul, Turkey"},{"name":"Institute of Health Sciences, Marmara University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2026,3,24]]},"reference":[{"key":"10.25259\/IJMR_2408_2025\/ref-1","doi-asserted-by":"publisher","first-page":"11","DOI":"10.2147\/TACG.S239603","article-title":"Spinal muscular atrophy: Mutations, testing, and clinical relevance","volume":"14","author":"Keinath","year":"2021","journal-title":"Appl Clin Genet."},{"key":"10.25259\/IJMR_2408_2025\/ref-3","doi-asserted-by":"publisher","first-page":"7S9","DOI":"10.1016\/S0929-693X(20)30270-0","article-title":"Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)","volume":"27","author":"Rouzier","year":"2020","journal-title":"Arch Pediatr."},{"key":"10.25259\/IJMR_2408_2025\/ref-4","doi-asserted-by":"publisher","first-page":"e200310","DOI":"10.1212\/CPJ.0000000000200310","article-title":"Spinal 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