Clinical biochemistry · 2007
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Hung Chia-Cheng, Lee Chien-Nan, Chang Chien-Hui, Jong Yuh-Jyh, Chen Chih-Ping, Hsieh Wu-Shiun, Su Yi-Ning, Lin Win-Li
Аннотация
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.
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.
Предметные рубрики MeSH
AchondroplasiaCartilageChromatography, High Pressure LiquidDNA Mutational AnalysisFibroblast Growth Factor 3Heteroduplex AnalysisHumansNucleic Acid DenaturationPoint MutationPolymorphism, Single NucleotideReceptor, Fibroblast Growth Factor, Type 3Sensitivity and SpecificityTaiwanTransition Temperature