Head and Neck Imaging
Detection FGFR3 Gene Mutation in Four Achondroplasia Patients*
Author：YIN Xiao-li, LU Yan-qin, DAI Yun-zhang,et al
affiliation：School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences,Jinan 250022, Shandong Province, China
PDFAbstract
Objective To detect the firbroblast growth factor receptor3(FGFR3) mutation in 4 patients with achondroplasia (ACH). Methods Whole genomic DNA was extracted from peripheral blood of 4 ACH patients and their parents. Exon 10 of FGFR3 gene was amplified by PCR and then was sequenced by traditional Sanger sequencing. Sequencing results was analyzed by Mutation survey software. Results Substitution of c.1138 G>A (Gly 380Arg) in FGFR3 was found in all 4 ACH patients. Conclusion As reported, The G>A transition mutation at nucleotide position 1138 in exon 10of FGFR3 gene is the main cause of achondroplasia. Mutation detection of FGFR3 gene provides an experimental basis for prenatal gene diagnosis.
【Keyword】Achondroplasia; Fibroblast Growth Factor Receptor3gene(FGFR3); Genetic Diagnosis
【Chart number】R681.3
【Document Identification Number】A
【DOI】10.3969/j.issn.1009-3257.2018.02.001
Journal of Rare Diseases
th25Volume， th 2 Issue
2019Year11Month
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