{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T08:19:06Z","timestamp":1771661946725,"version":"3.50.1"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2006,3,1]],"date-time":"2006-03-01T00:00:00Z","timestamp":1141171200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Background: Spinal muscular atrophy (SMA) is a common inherited and fatal neuromuscular disease caused by deletions and\/or mutations that lead to altered concentrations of proteins encoded by the survival motor neuron genes SMN1 and SMN2. Because of the high incidence (at least 1 in 10 000 live births and a carrier frequency of 1 in 35 to 1 in 50) and severity of the disease, precise quantification of SMN1 and SMN2 gene copy numbers is essential for diagnosis and genetic counseling.<\/jats:p>\n               <jats:p>Methods: We developed a genotyping platform combining capillary electrophoresis and matrix-assisted laser desorption\/ionization time-of-flight mass spectrometry (MALDI-TOF MS) to quantify absolute gene dosage. The absolute gene dosage can be determined by a multiplexed competitive PCR protocol followed by capillary electrophoresis analysis. The relative SMN1\/SMN2 ratio can be analyzed by PinPoint assay followed by MALDI-TOF MS analysis.<\/jats:p>\n               <jats:p>Results: The complementary assays were evaluated in confirmed cases including 9 affected patients, 33 carriers, and 478 healthy individuals from the general population. We were able to determine all genotypes with different SMN1\/SMN2 gene copy number ratios, which unambiguously diagnosed carrier status and the severity of SMA with 100% specificity.<\/jats:p>\n               <jats:p>Conclusions: This quantitative genotyping platform is suitable for detection of SMA. The described approach may serve as a general quantitative genotyping method for molecular diagnosis of other inheritable diseases.<\/jats:p>","DOI":"10.1373\/clinchem.2005.061192","type":"journal-article","created":{"date-parts":[[2006,1,26]],"date-time":"2006-01-26T20:48:32Z","timestamp":1138308512000},"page":"361-369","source":"Crossref","is-referenced-by-count":24,"title":["Determination of SMN1\/SMN2 Gene Dosage by a Quantitative Genotyping Platform Combining Capillary Electrophoresis and MALDI-TOF Mass Spectrometry"],"prefix":"10.1093","volume":"52","author":[{"given":"Hung-Yi","family":"Kao","sequence":"first","affiliation":[{"name":"Institute of Chemistry, and Genomics Research Center, Academia Sinica, Taipei, Taiwan, ROC"},{"name":"Department of Bioinformatics and Structure Biology, National Tsing Hua University, Hsinchu, Taiwan, ROC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Ning","family":"Su","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, ROC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsin-Kai","family":"Liao","sequence":"first","affiliation":[{"name":"Institute of Chemistry, and Genomics Research Center, Academia Sinica, Taipei, Taiwan, ROC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming S","family":"Liu","sequence":"first","affiliation":[{"name":"Institute eGene, Inc., Irvine, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Ju","family":"Chen","sequence":"first","affiliation":[{"name":"Institute of Chemistry, and Genomics Research Center, Academia Sinica, Taipei, Taiwan, ROC"},{"name":"Institute of Molecular Biology, National Chung-Hsing University, Taichun, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2006,3,1]]},"reference":[{"key":"2020022801330805400_R1","doi-asserted-by":"crossref","unstructured":"Pearn J. 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