{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T15:44:25Z","timestamp":1694360665144},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,8,26]],"date-time":"2015-08-26T00:00:00Z","timestamp":1440547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2015,8,26]],"date-time":"2015-08-26T00:00:00Z","timestamp":1440547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI), a congenital bone disorder, is caused by mutations in <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic> genes, leading to deficiency of type I collagen. The high resolution melting (HRM) analysis has been used for detecting mutations, polymorphisms and epigenetic alteration in double-stranded DNAs. This study was to evaluate the potential application of HRM analysis for identifying gene mutations in patients with OI. This study included four children with OI and their parents and fifty normal people as controls. Blood samples were collected for HRM analysis of PCR-amplified exons and flanking DNA sequences of <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic> genes. Direct gene sequencing was performed to validate HRM-identified gene mutations. As compared to controls, HRM analysis of samples form children with OI showed abnormal melting curves in exons 11 and 33\u201334 of the <jats:italic>COL1A1<\/jats:italic> gene and exons 19 and 48 of the <jats:italic>COL1A2<\/jats:italic> gene, which indicates the presence of heterozygous mutations in <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic> genes. In addition to two known mutations in the <jats:italic>COL1A2<\/jats:italic> gene, c.982G\u2009&gt;\u2009A and c.3197G\u2009&gt;\u2009T, sequencing analysis identified two novel mutations in the <jats:italic>COL1A1<\/jats:italic> gene, c.2321delC and c.768dupC mutations, which function as premature stop codons. These results support future studies of applying HRM analysis as a diagnostic approach for OI.<\/jats:p>","DOI":"10.1038\/srep13468","type":"journal-article","created":{"date-parts":[[2015,8,26]],"date-time":"2015-08-26T09:40:07Z","timestamp":1440582007000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Identification of gene mutation in patients with osteogenesis imperfect using high resolution melting analysis"],"prefix":"10.1038","volume":"5","author":[{"given":"Jianhai","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuzhi","family":"Ren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianke","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keqiu","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,8,26]]},"reference":[{"key":"BFsrep13468_CR1","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.berh.2007.12.012","volume":"22","author":"FH Glorieux","year":"2008","unstructured":"Glorieux, F. H. Osteogenesis imperfecta. Best practice & research. Clin. Rheumatol. 22, 85\u2013100 (2008).","journal-title":"Best practice & research. Clin. Rheumatol."},{"key":"BFsrep13468_CR2","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1136\/jmg.16.2.101","volume":"16","author":"DO Sillence","year":"1979","unstructured":"Sillence, D. O., Senn, A. & Danks, D. M. Genetic heterogeneity in osteogenesis imperfecta. J. Med. Genet. 16, 101\u2013116 (1979).","journal-title":"J. Med. Genet."},{"key":"BFsrep13468_CR3","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1038\/nrendo.2011.81","volume":"7","author":"A Forlino","year":"2011","unstructured":"Forlino, A., Cabral, W. A., Barnes, A. M. & Marini, J. C. New perspectives on osteogenesis imperfecta. Nat. Rev. Endocrinol. 7, 540\u2013557 (2011).","journal-title":"Nat. Rev. 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