{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:34:54Z","timestamp":1760574894470,"version":"build-2065373602"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2009,4,16]],"date-time":"2009-04-16T00:00:00Z","timestamp":1239840000000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Electrophoresis"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We established a universal multiplex PCR and CE to calculate the copy number of survival motor neuron (<jats:italic>SMN1<\/jats:italic> and <jats:italic>SMN2<\/jats:italic>) genes for clinical screening of spinal muscular atrophy (SMA). In this study, one universal fluorescent primer was designed and applied for multiplex PCR of <jats:italic>SMN1<\/jats:italic>, <jats:italic>SMN2<\/jats:italic> and two internal standards (<jats:italic>CYBB<\/jats:italic> and <jats:italic>KRIT1<\/jats:italic>). These amplicons were separated by conformation sensitive CE. Mixture of hydroxyethyl cellulose and hydroxypropyl cellulose were used in this CE system. Our method provided the potential to separate two 390\u2010bp PCR products that differ in a single nucleotide. Differentiation and quantification of <jats:italic>SMN1<\/jats:italic> and <jats:italic>SMN2<\/jats:italic> are essential for clinical screening of SMA patients and carriers. The DNA samples included 22 SMA patients, 45 parents of SMA patients (obligatory carriers) and 217 controls. For evaluating accuracy, those 284 samples were blind\u2010analyzed by this method and denaturing high pressure liquid chromatography (DHPLC). Eight of the total samples showed different results. Among them, two samples were diagnosed as having only <jats:italic>SMN2<\/jats:italic> gene by DHPLC, however, they contained both <jats:italic>SMN1<\/jats:italic> and <jats:italic>SMN2<\/jats:italic> by our method. They were further confirmed by DNA sequencing. Our method showed good agreement with the DNA sequencing. The multiplex ligation\u2010dependent probe amplification (MLPA) was used for confirming the other five samples, and showed the same results with our CE method. For only one sample, our CE showed different results with MLPA and DNA sequencing. One out of 284 samples (0.35%) belonged to mismatching. Our method provided a better accurate method and convenient method for clinical genotyping of SMA disease.<\/jats:p>","DOI":"10.1002\/elps.200800375","type":"journal-article","created":{"date-parts":[[2009,4,16]],"date-time":"2009-04-16T08:04:15Z","timestamp":1239869055000},"page":"1102-1110","source":"Crossref","is-referenced-by-count":15,"title":["Universal multiplex PCR and CE for quantification of <i>SMN1\/SMN2<\/i> genes in spinal muscular atrophy"],"prefix":"10.1002","volume":"30","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":"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"}]}],"member":"311","published-online":{"date-parts":[[2009,4,16]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7910982"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540290108025"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1177"},{"key":"e_1_2_6_6_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_6_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/302369"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/515465"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/513913"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200700799"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100480050040"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.384"},{"key":"e_1_2_6_14_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_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10221"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20160"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac0512047"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2005.061192"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200600647"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31803d35bc"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2003.09.006"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200600136"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/1522-2683(200109)22:17<3688::AID-ELPS3688>3.0.CO;2-I"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/1522-2683(200205)23:10<1460::AID-ELPS1460>3.0.CO;2-J"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200390031"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200406162"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200500597"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60016-5"},{"key":"e_1_2_6_29_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.200800375","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/elps.200800375","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T10:09:46Z","timestamp":1760522986000},"score":1,"resource":{"primary":{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/10.1002\/elps.200800375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4]]},"references-count":28,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/elps.200800375"],"URL":"https:\/\/doi.org\/10.1002\/elps.200800375","archive":["Portico"],"relation":{},"ISSN":["0173-0835","1522-2683"],"issn-type":[{"type":"print","value":"0173-0835"},{"type":"electronic","value":"1522-2683"}],"subject":[],"published":{"date-parts":[[2009,4]]}}}