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 reactionrestriction 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.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
1997年第12期624-626,共3页
Chinese Journal of Pediatrics
关键词
软骨发育不全
受体
点突变
基因突变
检测
Achondroplasia Receptors, fibroblast growth factor Point mutation analysis