软骨发育不全患儿FGFR3基因突变的检测  

Detection of FGFR3 gene mutation in achondroplasia

作　　者：沈明[1,2] 喻唯民[1,2] 赵时敏[1,2] 关钧[1,2] 范慕贞[1,2] 庞宁[1,2] 刘培嫦[1,2] 张雪哲[1,2] 

机构地区：[1]中日友好医院 [2]中国协和医科大学北京协和医院

出　　处：《中华儿科杂志》1997年第12期624-626,共3页Chinese Journal of Pediatrics

摘　　要：为了解软骨发育不全基因突变类型，采用聚合酶链反应－限制性酶切分析的方法，对１２例软骨发育不全患者、２例散发患者的父母和４例健康正常人的成纤维细胞生长因子受体３（ＦＧＦＲ３）基因位点的点突变进行检测。结果显示，１２例患者１１例为ＦＧＦＲ３基因跨膜区１１３８位核苷酸Ｇ→Ａ的转换，１例为Ｇ→Ｃ的颠换，均导致３８０位密码子的错义突变，即由精氨酸替代了甘氨酸。２例散发患者的父母和４例健康正常人未发现突变。结论：软骨发育不全患者出现ＦＧＦＲ３基因跨膜区的点突变，３８０位密码子是软骨发育不全患者突变的热点。To determine gene mutations of achondroplasia in Chinese and establish a simple, rapid, sensitive and specific molecular diagnostic method, the mutations of the fibroblast growth factor receptor 3 (FGFR3) gene of 12 patients with achondroplasia, the parents of 2 sporadic cases, and 4 normal controls wereassayed by polymerase chain reactionrestriction enzyme analysis. The results showed that 11 patients had G→A transition at nucleotide 1138 in the transmembrane domain of FGFR3 and another had G→C transversion at the same locus. Both misscnse mutation resulted in the substitution of an arginine residue for a glycine at position 380 of the mature protein. No mutation was found in the parents of the 2 sporadic cases and the 4 normal controls. The conclution is that the achondroplasia patients have point mutation in the transmembrane domain of FGFR3 and the codon 380 is the hotspot of the mutation.

关 键 词：软骨发育不全 受体 点突变 基因突变 检测 

分 类 号：R681.304[医药卫生—骨科学]