FGFR3基因G1138A突变导致软骨发育不全

G1138A mutation in FGFR3 gene causes achondroplasia

目的对一例临床诊断为软骨发育不全(ACH)的患者及其父母的成纤维细胞生长因子受体3(FGFR3)进行基因突变检测。方法提取患者及其家庭成员外周血DNA,对FGFR3基因的全部编码氨基酸外显子及相邻内含子区设计引物,进行PCR扩增,并对扩增产物进行测序。结果 FGFR3基因第10外显子发生了cDNA第1138位G到A的转换,使得其所编码蛋白FGR3的第380位氨基酸由甘氨酸变为精氨酸。结论 FGFR3基因的G1138A杂合突变为该患者发病的原因,进一步说明了该突变为热点突变。

Objective To detect the firbroblast growth factor receptor 3 （FGFR3） gene mutation in a clinically diagnosed patient with achondroplasia（ACH） and his families. Methods Genomic DNA from one patient with ACH and his parents was prepared for PCR. A set of primers were designed to amplify all the exons that encode the FGR3 protein and the adjacent intron region. Products of PCR were purified and sequenced directly. Results A de novo heterozygous Gl138A mutation was detected in the patient with ACH,and this mutation made the amino acid at position 386 of the FGR3 protein change from glycine to arginine. Conclusion The G-A transition mutation at nucleotide 1138 was the pathologic cause of this patient with ACH, and the G1138A mutation was further demonstrated to be a hotspot.