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SMA type I patients have one or two <jats:italic>SMN2<\/jats:italic> copies while most SMA type II patients carry three <jats:italic>SMN2<\/jats:italic> copies and SMA III patients have three or four <jats:italic>SMN2<\/jats:italic> copies. The <jats:italic>SMN1<\/jats:italic> gene produces a full-length transcript (FL-SMN) while <jats:italic>SMN2<\/jats:italic> is only able to produce a small portion of the FL-SMN because of a splice mutation which results in the production of abnormal SMN\u03947 mRNA.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>In this study we performed quantification of the <jats:italic>SMN2<\/jats:italic> gene copy number in Russian patients affected by SMA type II and III (42 and 19 patients, respectively) by means of real-time PCR. Moreover, we present two families consisting of asymptomatic carriers of a homozygous absence of the <jats:italic>SMN1<\/jats:italic> gene. We also developed a novel RT-qPCR-based assay to determine the FL-SMN\/SMN\u03947 mRNA ratio as SMA biomarker.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Comparison of the <jats:italic>SMN2<\/jats:italic> copy number and clinical features revealed a significant correlation between mild clinical phenotype (SMA type III) and presence of four copies of the <jats:italic>SMN2<\/jats:italic> gene. In both asymptomatic cases we found an increased number of <jats:italic>SMN2<\/jats:italic> copies in the healthy carriers and a biallelic <jats:italic>SMN1<\/jats:italic> absence. Furthermore, the novel assay revealed a difference between SMA patients and healthy controls.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>We suggest that the <jats:italic>SMN2<\/jats:italic> gene copy quantification in SMA patients could be used as a prognostic tool for discrimination between the SMA type II and SMA type III diagnoses, whereas the FL-SMN\/SMN\u03947 mRNA ratio could be a useful biomarker for detecting changes during SMA pharmacotherapy.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-12-96","type":"journal-article","created":{"date-parts":[[2011,7,15]],"date-time":"2011-07-15T18:14:44Z","timestamp":1310753684000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III"],"prefix":"10.1186","volume":"12","author":[{"given":"Galina Yu","family":"Zheleznyakova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anton V","family":"Kiselev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viktor G","family":"Vakharlovsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathias","family":"Rask-Andersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rohit","family":"Chavan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna A","family":"Egorova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helgi B","family":"Schi\u00f6th","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladislav S","family":"Baranov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,7,15]]},"reference":[{"key":"823_CR1","first-page":"1","volume":"36","author":"I Biros","year":"1999","unstructured":"Biros I, Forrest S: Spinal muscular atrophy: untangling the knot?. 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