检测FGFR_3基因鉴别诊断先天性软骨发育不全

Differential diagnosis of achondroplasia by FGFR_3 gene analysis

目的 建立一种基因水平上鉴别诊断先天性软骨发育不全的方法。方法 采用PCR -RFLP技术对 1例临床确诊的ACH患者 ,1例临床怀疑为ACH患者的FGFR3 基因第 10外显子 1138位核苷酸作突变型分析。结果 确诊的ACH患者 1138核苷酸存在G→A的转换 ,而临床怀疑为ACH患者的 1138核苷酸无任何改变。结论 检测FGFR3 基因突变可从分子水平上鉴别诊断先天性软骨发育不全 ,准确率达 95 %。

Objective:To establish a method for differential diagnosis of achondroplasia in gene level.Methods:Nucleotide 1138 in exon 10 of FGFR 3 gene were analysed from 1 ACH patient and 1 suspicious ACH patient by PCR-RFLP.Results:A G□A transition at nuclectide 1138 exists in ACH patient, but not in suspicious patient.Conclusion:Detection of FGFR 3 gene mutation can distinguish and diagnose achondroplasia in gene level,its accuracy up to 95%.