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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/8355


    Title: Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis
    Authors: Hung, CC (Hung, Chia-Cheng);Lee, CN (Lee, Chien-Nan);Chang, CH (Chang, Chien-Hui);Jong, YJ (Jong, Yuh-Jyh);Chen, CP (Chen, Chih-Ping);Hsieh, WS (Hsieh, Wu-Shiun);Su, YN (Su, Yi-Ning);Lin, WL (Lin, Win-Li)
    Contributors: Department of Biotechnology
    Keywords: FGFR3 gene;achondroplasia;melting curve analysis;PERFORMANCE LIQUID-CHROMATOGRAPHY;PRIMER-EXTENSION ANALYSIS;GROWTH-FACTOR RECEPTOR-3;COUPLING HETERODUPLEX;RAPID DETECTION;HYPOCHONDROPLASIA;DWARFISM;ASSAY;DNA;SYSTEM
    Date: 2008-02
    Issue Date: 2010-03-26 10:30:02 (UTC+8)
    Publisher: Asia University
    Abstract: Objectives: The fibroblast growth factor receptor 3 gene (FGFR3) plays a critical role in cartilage growth-plate differentiation and bony development. It has been shown that 97% of patients with achondroplasia have a G to A transition mutation at position 1138 (c.1138 G>A) of codon 380 of the FGFR3 gene.
    Design and methods: Exon 8 of the FGFR3 gene was analyzed in 40 patients with achondroplasia, as well as in 50 control individuals for the presence of the c.1138G>A variant using melting curve analysis with a high-resolution melting instrument (HR-1).
    Results: The high-resolution melting curve analysis successfully genotyped the c.1138G>A mutation in exon 8 of the FGFR3 gene in all 40 patients with achondroplasia without the need of further assays. The technique had a sensitivity and specificity of 100%.
    Conclusion: High-resolution melting analysis is a simple, rapid, and sensitive one tube assay for genotyping the FGFR3 gene. The technique is a low cost high-throughput FGFR3 screening assay. (c) 2007 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
    Relation: CLINICAL BIOCHEMISTRY, 41 (3): 162-166
    Appears in Collections:[生物科技學系] 期刊論文

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