Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis
نویسندگان
چکیده
منابع مشابه
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.
Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More than 90% of patients with achondroplasia have a G to A transversion or G to C transversion at position 1138 of the fibroblast growth factor receptor-3 (FGFR3) gene resulting in the substitution of an arginine for a glycine residue at position 380 (G380R) of the ...
متن کاملFGFR3 mutation causes abnormal membranous ossification in achondroplasia.
FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses. Achondroplasia (ACH), the most frequent dwarfism, is due to an FGFR3-activating mutation which results in impaired endochondral ossification. The effects of the mutation on membranous ossification are unknown. Fgfr3(Y367C/+) mice mimicking ACH and craniofacial analysis of patients with ACH and FGFR3-related cr...
متن کاملMutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis
Single strand conformation polymorphism (SSCP) and heteroduplex analysis (HDA) are two of the most popular electrophoresis-based mutation detection methods. Coupled to DNA amplification of the sequence to be analyzed, these techniques have become the methods of choice for a number of molecular diagnostic laboratories. This can be explained mainly by the numerous advantages, namely their technic...
متن کاملGly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several human skeletal dysplasias, including the most common form of dwarfism, achondroplasia. Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cy...
متن کاملطراحی و امکان سنجی ساخت fluorescence detection system برای دستگاهpcr
در این پروژه هدف طراحی و ساخت fluorescence detection systemجهت آشکارسازی مولکول های dna می باشد. در روش pcr، طی چندین چرخه دمایی، مولکول های dna کپی می شوند و سپس با استفاده از روش fluorescence detection، مولکول های بر انگیخته شده dna آشکارسازی می شوند. پس از آشکارسازی می توان به کپی و یا عدم کپی dnaها پی برد.می توان برای جداسازی مولکول های dna بر اساس طولشان، از روش gel electrophoresis استفاده...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2004
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-004-0165-0