目的 对4例临床诊断为软骨发育不全（ACH）患者进行成纤维细胞因子受体3（FGFR3）基因突变检测。方法 提取4 例患者及父母外周血DNA，设计FGFR3基因外显子10的引物序列，应用聚合酶链反应（PCR）扩增，并对扩增产物进 行测序，通过Mutation Survey软件分析突变位点。结果 4例ACH患者均存在FGFR3基因第10外显子1138位点G>A碱基 转换，导致FGFR3的第380位氨基酸由甘氨酸(Gly)变为精氨酸（Arg）。结论 FGFR3基因10号外显子c.1138G>A的杂 合突变是造成ACH的主要致病原因，FGFR3基因突变检测为产前基因诊断提供了实验依据。

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.