Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 1999
[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia].
СтатьяНазвание и аннотация: Перевод в очереди
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Zhao P, Ma H, Wang Y, Mi Z, Wu Y, Jiang M, Gao H, Li Y
Аннотация
OBJECTIVE: To evaluate whether mutation in the exon 10 of the fibroblast growth factor receptor 3(FGFR3) gene in common in Chinese patients with achondroplasia.
METHODS: Genomic DNA from seven sporadic cases of achondroplasia was studied by using PCR-SSCP and restriction enzymes.
RESULTS: All patients carried the same glycine-to-arginine mutation at codon 380(G380R) of the transmembrane domain of FGFR3.
CONCLUSION: The results suggest that the G380R mutation of FGFR3 is also a frequent mutation causing achondroplasia in Chinese. Detecting FGFR 3 gene mutation with PCR-SSCP and restriction enzymes analysis is a convenient, rapid and reliable molecular diagnostic assay for prenatal and early diagnosis of achondroplasia.
METHODS: Genomic DNA from seven sporadic cases of achondroplasia was studied by using PCR-SSCP and restriction enzymes.
RESULTS: All patients carried the same glycine-to-arginine mutation at codon 380(G380R) of the transmembrane domain of FGFR3.
CONCLUSION: The results suggest that the G380R mutation of FGFR3 is also a frequent mutation causing achondroplasia in Chinese. Detecting FGFR 3 gene mutation with PCR-SSCP and restriction enzymes analysis is a convenient, rapid and reliable molecular diagnostic assay for prenatal and early diagnosis of achondroplasia.