软骨发育不全FGFR3基因突变的研究

Mutations of the Fibroblast Growth Factor Receptor 3 Gene in Achondroplasia

目的了解中国人软骨发育不全患者成纤维细胞生长因子受体３（ｆｉｂｒｏｂｌａｓｔｇｒｏｗｔｈｆａｃｔｏｒｒｅｃｅｐｔｏｒ３，ＦＧＦＲ３）基因变异情况。方法应用ＰＣＲ－ＳＳＣＰ和限制性内切酶酶切方法，分析辽宁地区７例软骨发育不全（ａｃｈｏｎｄｒｏｐｌａｓｉａ，ＡＣＨ）患者外周血ＤＮＡ标本中ＦＧＦＲ３基因第１０外显子区域。结果７例患者均检测到相同的Ｇ３８０Ｒ点突变。结论表明Ｇ３８０Ｒ为中国人ＡＣＨ患者常见突变。应用ＰＣＲ－ＳＳＣＰ和限制性内切酶酶切的方法检测ＦＧＦＲ３基因突变是产前诊断和早期诊断ＡＣＨ患者的简便、快速。

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.