{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T06:10:53Z","timestamp":1694931053203},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,2,5]],"date-time":"2013-02-05T00:00:00Z","timestamp":1360022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochem Molecular Bio Educ"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:p>A blended approach encompassing problem\u2010based learning (PBL) and structured inquiry was used in this laboratory exercise based on the congenital disease Osteogenesis imperfecta (OI), to introduce commonly used techniques in biomolecular analysis within a clinical context. During a series of PBL sessions students were presented with several scenarios involving a 2 year old child, who had experienced numerous fractures. Key learning goals related to both the theory and practical aspects of the course, covering biomolecular analysis and functional genomics, were identified in successive PBL sessions. The laboratory exercises were conducted in 3 hour blocks over six weeks, focused firstly on protein analysis, followed by nucleic acids. Students isolated collagen from normal and OI affected fibroblast cultures. Analysis by SDS\u2010PAGE demonstrated \u03b11 and \u03b12 of collagen Type I chains at approximately 95 kDa and 92 kDa, respectively. Subtle differences in protein mobility between the control and OI samples were observed by some students, but most considered it inconclusive as a diagnostic tool. The nucleic acid module involved isolation of RNA from OI affected fibroblasts. The RNA was reverse transcribed and used as template to amplify a 354 bp COL1A1 fragment. Students were provided with the sequence of the OI affected COL1A1 PCR product aligned with the normal COL1A1 sequence, allowing identification of the mutation, as the substitution of Arg for Gly<jats:sup>976<\/jats:sup> of the triple helical region. Our experience with student cohorts over several years is that presentation of this laboratory exercise within a relevant clinical context, and the opportunity for active engagement with the experimental procedures via PBL sessions, supported the learning of basic theory and practical techniques of biomolecular analysis. \u00a9 2013 by The International Union of Biochemistry and Molecular Biology 41(2):103\u2010109, 2013<\/jats:p>","DOI":"10.1002\/bmb.20672","type":"journal-article","created":{"date-parts":[[2013,2,5]],"date-time":"2013-02-05T06:25:40Z","timestamp":1360045540000},"page":"103-109","source":"Crossref","is-referenced-by-count":1,"title":["Investigation of the human disease osteogenesis imperfecta: A research\u2010based introduction to concepts and skills in biomolecular analysis"],"prefix":"10.1002","volume":"41","author":[{"given":"Karen","family":"Mate","sequence":"first","affiliation":[{"name":"From the School of Biomedical Sciences and Pharmacy University of Newcastle NSW Australia 2308"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alistair","family":"Sim","sequence":"additional","affiliation":[{"name":"From the School of Biomedical Sciences and Pharmacy University of Newcastle NSW Australia 2308"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Weidenhofer","sequence":"additional","affiliation":[{"name":"From the School of Biomedical Sciences and Pharmacy University of Newcastle NSW Australia 2308"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liz","family":"Milward","sequence":"additional","affiliation":[{"name":"From the School of Biomedical Sciences and Pharmacy University of Newcastle NSW Australia 2308"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Scott","sequence":"additional","affiliation":[{"name":"From the School of Biomedical Sciences and Pharmacy University of Newcastle NSW Australia 2308"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1096022"},{"key":"e_1_2_7_3_1","volume-title":"A Report to the Teagle Foundation","author":"ASBMB","year":"2008"},{"key":"e_1_2_7_4_1","volume-title":"Their role in developing future bioscientists","author":"Wilson J.","year":"2008"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3108\/beej.13.3"},{"key":"e_1_2_7_6_1","first-page":"37","volume-title":"Ideas and Interventions","author":"Elliott K.","year":"2009"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/00461520701263368"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/00461520701263350"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1187\/cbe.04-09-0052"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1187\/cbe.07-07-0052"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1039\/b7rp90009k"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/bmb.49"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.18388\/abp.2002_3802"},{"key":"e_1_2_7_14_1","first-page":"2","volume-title":"Pathophysiology of Disease","author":"Barsh G.","year":"2010"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)71548-2"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2690175"}],"container-title":["Biochemistry and Molecular Biology Education"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbmb.20672","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbmb.20672","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/iubmb.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bmb.20672","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T05:07:27Z","timestamp":1694840847000},"score":1,"resource":{"primary":{"URL":"https:\/\/iubmb.onlinelibrary.wiley.com\/doi\/10.1002\/bmb.20672"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,5]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1002\/bmb.20672"],"URL":"https:\/\/doi.org\/10.1002\/bmb.20672","archive":["Portico"],"relation":{},"ISSN":["1470-8175","1539-3429"],"issn-type":[{"value":"1470-8175","type":"print"},{"value":"1539-3429","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,5]]}}}