{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T22:02:22Z","timestamp":1767650542084,"version":"3.37.3"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2023,2,15]],"date-time":"2023-02-15T00:00:00Z","timestamp":1676419200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The MLPA (multiplex ligation dependent probe amplification) technique is currently the test most widely used to detect mutations in the Duchenne\/Becker muscular dystrophy (DMD) gene in the initial assessment. However, several studies have suggested that MLPA results require implementing other detection methods due to false duplication. Our aim was to evaluate variables that could alter the peak ratio in MLPA in individuals with Duchenne\/Becker muscular dystrophy (DMD\/BMD) who present sequence variants at the probe hybridization site, such as the location of sequence variants (SVs), melting temperature of the probe, and the type of variant.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We analyzed patients with clinical suspicion of DMD\/BMD through the MLPA technique. The DMD gene was sequenced in patients with normal results in MLPA.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Of 111 patients, 72 had an abnormal MLPA result, of which 10 had a single exon abnormal peak, and 39 had a normal peak ratio. Out of 10 patients, 4 (40%) with a single exon abnormal peak ratio had SV at the hybridization site of the probe. In the other 6, the deletion was confirmed. Out of 39 patients with a normal peak ratio, 11 presented SVs at the hybridization site of the probe, and DMD\/BMD was confirmed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>In cases of abnormal peak ratio results of MLPA in a single exon, it would be valuable to sequence the DMD gene to assess whether variants in the probe hybridization site might result in a false positive that could be interpreted as an exon deletion.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/jalm\/jfac136","type":"journal-article","created":{"date-parts":[[2023,2,15]],"date-time":"2023-02-15T17:30:24Z","timestamp":1676482224000},"page":"469-478","source":"Crossref","is-referenced-by-count":4,"title":["Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne\/Becker Muscular Dystrophy"],"prefix":"10.1093","volume":"8","author":[{"given":"Tatiana","family":"Buitrago","sequence":"first","affiliation":[{"name":"Department of Physiological Sciences, Faculty of Medicine, Pontificia Universidad Javeriana , Bogot\u00e1 , Colombia"},{"name":"Human Genetics Institute, Faculty of Medicine, Pontificia Universidad Javeriana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Garc\u00eda-Acero","sequence":"additional","affiliation":[{"name":"Human Genetics Institute, Faculty of Medicine, Pontificia Universidad Javeriana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Guerra-Torres","sequence":"additional","affiliation":[{"name":"Human Genetics Institute, Faculty of Medicine, Pontificia Universidad Javeriana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"Pineda","sequence":"additional","affiliation":[{"name":"Human Genetics Institute, Faculty of Medicine, Pontificia Universidad Javeriana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"G\u00e1mez","sequence":"additional","affiliation":[{"name":"Human Genetics Institute, Faculty of Medicine, Pontificia Universidad Javeriana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6336-5347","authenticated-orcid":false,"given":"Fernando","family":"Su\u00e1rez-Obando","sequence":"additional","affiliation":[{"name":"Human Genetics Institute, Faculty of Medicine, Pontificia Universidad Javeriana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reggie","family":"Garc\u00eda-Robles","sequence":"additional","affiliation":[{"name":"Department of Physiological Sciences, Faculty of Medicine, Pontificia Universidad Javeriana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0141-1149","authenticated-orcid":false,"given":"Paola","family":"Ayala-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Human Genetics Institute, Faculty of Medicine, Pontificia Universidad Javeriana , Bogot\u00e1 , Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,2,15]]},"reference":[{"key":"2023050412201368400_jfac136-B1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-017-0631-3","article-title":"The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence 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multidisciplinary care","volume":"2","author":"Bushby","year":"2010","journal-title":"Lancet Neurol"},{"author":"McKusick","key":"2023050412201368400_jfac136-B5"},{"key":"2023050412201368400_jfac136-B6","first-page":"137","article-title":"An\u00e1lisis del espectro mutacional de la distrofia muscular de Duchenne en un grupo de pacientes colombianos [Analysis of the mutational spectrum of Duchenne muscular dystrophy in a group of Colombian patients] [in Spanish]","volume":"10","author":"Garc\u00eda-Acero","year":"2018","journal-title":"Neurol Arg"},{"key":"2023050412201368400_jfac136-B7","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.jmoldx.2015.11.002","article-title":"Pitfalls of multiple ligation-dependent probe amplifications in detecting DMD exon deletions or duplications","volume":"18","author":"Kim","year":"2016","journal-title":"J Mol 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dystrophy","volume":"184","author":"Finsterer","year":"2006","journal-title":"Lung"},{"key":"2023050412201368400_jfac136-B14","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.nrl.2015.12.009","article-title":"Espectro mutacional de la distrofia muscular de Duchenne en Espa\u00f1a: estudio de 284 casos [Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases] [in Spanish]","volume":"32","author":"Vieitez","year":"2017","journal-title":"Neurolog\u00eda"},{"key":"2023050412201368400_jfac136-B15","first-page":"1","article-title":"Genetic analysis of 1051 Chinese families with Duchenne\/Becker muscular dystrophy","volume":"20","author":"Kong","year":"2019","journal-title":"BMC Med Gene. BioMed Central"},{"key":"2023050412201368400_jfac136-B16","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1525-1578(10)60560-0","article-title":"Experience and strategy for the molecular testing of Duchenne muscular dystrophy","volume":"7","author":"Prior","year":"2005","journal-title":"J Mol Diagn"},{"key":"2023050412201368400_jfac136-B17","doi-asserted-by":"crossref","first-page":"814","DOI":"10.3389\/fphar.2019.00814","article-title":"Molecular genetics analysis of 70 Chinese families with muscular dystrophy using multiplex ligation-dependent probe amplification and next-generation sequencing","volume":"10","author":"Wang","year":"2019","journal-title":"Front Pharmacol"},{"key":"2023050412201368400_jfac136-B18","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/jcla.21787","article-title":"MLPA application in clinical diagnosis of DMD\/BMD in Shanghai","volume":"29","author":"Ji","year":"2015","journal-title":"J Clin Lab Anal"}],"container-title":["The Journal of Applied Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jalm\/article-pdf\/8\/3\/469\/50194460\/jfac136.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jalm\/article-pdf\/8\/3\/469\/50194460\/jfac136.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T13:09:03Z","timestamp":1683205743000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jalm\/article\/8\/3\/469\/7040428"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,15]]},"references-count":18,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,2,15]]},"published-print":{"date-parts":[[2023,5,4]]}},"URL":"https:\/\/doi.org\/10.1093\/jalm\/jfac136","relation":{},"ISSN":["2475-7241"],"issn-type":[{"type":"electronic","value":"2475-7241"}],"subject":[],"published-other":{"date-parts":[[2023,5,1]]},"published":{"date-parts":[[2023,2,15]]}}}