摘要
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 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.
出处
《中华小儿外科杂志》
CSCD
1999年第3期155-156,共2页
Chinese Journal of Pediatric Surgery
关键词
软骨发育不全
FGFR3
基因突变
Achondroplasia Fibroblast growth factor receptor 3 Gene, Mutation
