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题名: Skeletal Dysplasia Caused by FGFR3 Mutation in Taiwanese Patients
作者: Tsai, F. J.;Lee, C. C.;Wu, J. Y.;Yang, T. Y.;Wang, Nancy M.;Yang, C. F.;Peng, C. T.;Tsai, C. H.
贡献者: 生物技術研究所
关键词: Achondroplasia;Amplification created restriction site;ACRS;Fibroblast growth factor receptor3;FGFR3;Hypochondroplasia;Thanatophoric dysplasia
日期: 2000-03
上传时间: 2012-06-06T02:04:05Z
出版者: 中臺灣醫學科學雜誌社
摘要: Background. The identification of a missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR3) gene in patients with achondroplasia was followed by the detection of common FGFR3 mutations in two clinically related occurrences of skeletal dysplasia.: hypochondroplasia, and thanatophoric dysplasia. In this study, we investigated the FGFR3 mutation of achondroplasia, hypochondroplasia, and thanatophoric dysplasia in Taiwanese patients. Methods: There were 28 patients with achondroplasia, 18 with hypochondroplasia and two with thanatophoric dysplasia type I included in this study. Polymerase chain reaction (PCR), direct sequencing, and amplification created restriction site (ACRS) tests were performed to analyze the mutations on FGFR3 in these patients. Results: Genetic homogeneity of achondroplasia was demonstrated as recurrent G380R mutations in all patients hitherto reported. Although all detected mutations of hypochondroplasia were accounted for by a recurrent N540K mutation in the first tyrosine kinase domain of the receptor, a significant portion (45%) of our patients did not harbor the N540K mutation. Two patients with type I thanatophoric dysplasia were found to carry the R248C mutation. Conclusions: We used either a natural restriction enzyme site or ACRS to detect the recurrent G380R mutation of achondroplasia. The use of the ACRS was found to be more cost-effective and efficient than the use of the natural restriction enzyme digest.
背景 第三號纖母細胞成長因子受體(FG FR3)基因上的突變會導致骨骼異化症是最近分子生物學的最重要發現之一。為了解台灣這類型疾病上的基因突變情形我們分析了achondroplasia,hypochondroplasia及thanatophoric dysplasia的病人其FGFI好的特殊點突變。方法 利用聚合酶連鎖反應、基因定序以及酵素內切法,找出骨骼異化症的突變。結果 所有的achondroplasia病人都帶有G380R的突變,而在hypochondroplasia病人身上則具有一常見的N540K的突變,但仍有45%的病人不具此突變,另外兩名罕見的thanatophoric dysplasia病人都有R248C突變。結論 本研究證實利用ACRS的方法偵測achondroplasia比傳統的酵素內切法更其效力。
關聯: Mid-Taiwan Journal of Medicine, 5(1): 16-21
显示于类别:[生物技術研究所] 期刊論文


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