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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外显子的３８０位甘氨酸被精氨酸取代），而临床诊断为２例软骨发育低下的患儿均未携带该外显子突变，与国外文献报道一致。结论ＦＧＦＲ３基因第１０外显子Ｇ３８０Ｒ突变可能为中国人软骨发育不全患儿突变热点之一，ＦＧＦＲ３基因突变分析可应用于软骨发育不全的基因诊断和对临床可疑患儿进行鉴别诊断。
Objective To investigate the clinical features of achondroplasia and characteristics of FGFR3 gene mutation. Methods Twenty-two children with achondroplasia were enrolled in this study. Seven cases of cartilage development were detected by PCR-SSCP and restriction enzyme digestion Incomplete family FGFR3 gene exon 10 mutation analysis. Results 86% of the cases were sporadic cases, all of them showed daucus at birth, and 7 cases of achondroplasia showed mutation of G380R of exon 10 of FGFR3 gene (380th position of exon 10 of FGFR3 gene Glycine was replaced by arginine). However, none of the 2 children with cartilage development in clinical diagnosis did not carry this exon mutation, which is consistent with that reported in foreign literature. Conclusion Mutation of G380R in exon 10 of FGFR3 gene may be one of the hot spots in Chinese children with achondroplasia. Mutation analysis of FGFR3 gene may be used for gene diagnosis of achondroplasia and differential diagnosis of suspicious children.