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Investigation of the human disease osteogenesis imperfecta: A research-based introduction to concepts and skills in biomolecular analysis.
MedLine Citation:
PMID:  23381775     Owner:  NLM     Status:  Publisher    
A blended approach encompassing problem-based 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-PAGE demonstrated α1 and α2 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(976) 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. © 2013 by The International Union of Biochemistry and Molecular Biology, 2013.
Karen Mate; Alistair Sim; Judith Weidenhofer; Liz Milward; Judith Scott
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-2-5
Journal Detail:
Title:  Biochemistry and molecular biology education : a bimonthly publication of the International Union of Biochemistry and Molecular Biology     Volume:  -     ISSN:  1539-3429     ISO Abbreviation:  Biochem Mol Biol Educ     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-2-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100970605     Medline TA:  Biochem Mol Biol Educ     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
School of Biomedical Sciences and Pharmacy, University of Newcastle NSW Australia 2308.
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