软骨发育不全1例基因突变检测

目的对1例临床诊断为软骨发育不全（achondroplasia，ACH）的患者及其父母的成纤维细胞生长因子受体3（fibroblastgrowthfactorreceptor3，FGFR3）进行基因突变检测。方法提取患者及其父母外周血DNA，对FGFR3基因的第10外显子区设计引物，进行PCR扩增，并对扩增产物进行限制性内切酶酶切分析。结果与父母及正常对照相比，此例患儿FGFR3基因第10外显子发生了第1138位G到A的点突变。结论FGFR3基因第10外显子G1138A杂合突变可能为该例软骨发育不全患者的主要病因。该检测结果与国内外研究结果一致，进一步说明该突变为热点突变。

Gene mutation detection in a patient with achondroplasia

Objective To detect the gene mutation of fibroblast growth factor receptor 3 （ FGFR3 ） in a clinically diagnosed patient with achondroplasia （ ACH ） and his parents. Methods Ge- nomic DNA samples from the patient and his parents were prepared for PCR. Primers were designed to amplify the 10th exon of the FGR3 gene and the products were digested by restriction enzyme directly. Results A de novo heterozygous G113 8 A mutation was detected in the patient compared with her parents and control. Conclusion The G- A transition mutation at nucleotide 1 13 8 was the main cause of this pa- tient with ACH. The results were consistent with the domestic and foreign research, and the G1 13 8 A mutation was further demonstrated to be a hot spot.