{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T13:16:58Z","timestamp":1777382218886,"version":"3.51.4"},"reference-count":33,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2008,6,10]],"date-time":"2008-06-10T00:00:00Z","timestamp":1213056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Electrophoresis"],"published-print":{"date-parts":[[2008,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present the first CE method for the separation and quantification of <jats:italic>SMN1<\/jats:italic> and <jats:italic>SMN2<\/jats:italic> genes. Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder deleted or mutated in <jats:italic>SMN1<\/jats:italic> gene and retained at least one copy of <jats:italic>SMN2<\/jats:italic> gene. However, these two genes are highly homologous, differentiation and quantification of <jats:italic>SMN1<\/jats:italic> and <jats:italic>SMN2<\/jats:italic> are therefore required in diagnosis to identify SMA patients and carriers. We developed a fluorescence\u2010labeled conformation\u2010sensitive CE method to quantitatively analyze PCR products covering the variable position in the <jats:italic>SMN1<\/jats:italic>\/<jats:italic>SMN2<\/jats:italic> genes using a copolymer solution composed of hydroxyethylcellulose and hydroxypropylcellulose. The DNA samples included 24 SMA patients, 52 parents of SMA patients (obligatory carriers), and 255 controls. Those 331 samples were blind analyzed to evaluate the method, and the results compared with those obtained using denaturing HPLC (DHPLC). Validation of accuracy was performed by comparing the results with those of DHPLC. Nine of total samples showed different results. Diagnosis of one fetus DNA among them was related to abortion or not, which was further confirmed by gel electrophoresis and DNA sequencing. Our method showed good coincidence with them, and proved the misdiagnosis of DHPLC. This simple and reliable CE method is a powerful tool for clinical genotyping of large populations to detect carriers and SMA patients.<\/jats:p>","DOI":"10.1002\/elps.200700799","type":"journal-article","created":{"date-parts":[[2008,6,10]],"date-time":"2008-06-10T12:48:51Z","timestamp":1213102131000},"page":"2904-2911","source":"Crossref","is-referenced-by-count":28,"title":["Quantification of <b><i>SMN1<\/i><\/b> and <b><i>SMN2<\/i><\/b> genes by capillary electrophoresis for diagnosis of spinal muscular atrophy"],"prefix":"10.1002","volume":"29","author":[{"given":"Chun\u2010Chi","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan\u2010Gowth","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerome","family":"Ferrance","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsin\u2010Yi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung\u2010Yee","family":"You","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yung\u2010Fu","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuh\u2010Jyh","family":"Jong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shou\u2010Mei","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao\u2010Hung","family":"Yeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,7,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540290108025"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1177"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/302369"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/515465"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/513913"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100480050040"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.384"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10221"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200009)16:3<253::AID-HUMU8>3.0.CO;2-8"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20160"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac0512047"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2005.061192"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/359167a0"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60458-8"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200500142"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200410379"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.chroma.2005.12.110"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200600095"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac049385k"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/bmc.353"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1006\/abio.2002.5629"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6354"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2005.11.008"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200406162"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200500597"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/1522-2683(200012)21:18<4096::AID-ELPS4096>3.0.CO;2-W"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/1522-2683(200204)23:7\/8<1033::AID-ELPS1033>3.0.CO;2-7"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9673(97)00142-8"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60016-5"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200410431"}],"container-title":["ELECTROPHORESIS"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Felps.200700799","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/elps.200700799","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T15:28:03Z","timestamp":1760542083000},"score":1,"resource":{"primary":{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/10.1002\/elps.200700799"}},"subtitle":[],"short-title":[],"issu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