软骨发育不全和FGFR3基因突变的临床研究

目的 探讨软骨发育不全的临床特点和ＦＧＦＲ３基因突变特点。方法 对２２例软骨发育不全患儿进行临床分析，并应用聚合酶链反应（ＰＣＲ）扩增－单链构象多态性（ＳＳＣＰ）及限制性内切酶酶解技术对其中７例软骨发育不全家系进行ＦＧＦＲ３基因第１０外显子突变分析。结果 ８６％为散发病例，全部患儿均在出生时即表现为头大，７例软骨发育不全患儿均显示出ＦＧＦＲ３基因第１０外显子Ｇ３８０Ｒ突变（ＦＧＦＲ３基因第１０外显

Mutation of Fibroblast Growth Factor Receptor 3 Gene and Achondroplasia

Objective To assess the clinical presentation and evaluate the fibroblast growth factorreceptor (FGFR) 3 gene mutation in patients suffering from achondroplasia. Methods Clinical and radiological features of achondroplasia were studied in 22 Patients. The mutation Of exon 10 in FGFR 3 gene wasevaluated by polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) and restriction enzyme analysis in 7 patients. Rodlts Sporadic mutation accounted for 86% of cases, all patientshad megalencephaly at birth. All 7 patients tested were found to have G380R mutation (substitution ofglycine with arginine at position 380). In contrast, G380R mutation was not detected in 2 Patients withhypochondroplasia. Conclusions We found that G380R is the hot site of mutation in Chinese patients withachondroplasia. This finding provides further evidence that mutation of FGFR 3 is responsible for achondroplasia, irrespective of the ethnic background. Study of G380R mutation enables one to differentiate achondroplasia from hypochonduoplasia.