软骨发育不全患者FGFR3突变基因分析  

Mutations Analysis of the Fibroblast Growth Factor Rece ptor 3 Gene in Achondroplasia

作　　者：王尧[1] 崔亚洲[2] 周小燕[2] 韩金祥[2] 

机构地区：[1]山东中医药大学 [2]山东省医药生物技术研究中心国家卫生部医药生物技术重点实验室山东省罕见病重点实验室,山东济南250062

出　　处：《罕少疾病杂志》2014年第1期1-5,共5页Journal of Rare and Uncommon Diseases

摘　　要：目的对9例初步诊断为软骨发育不全患者及其父母进行成纤维生长因子受体3(fibroblast growth factor receptor 3,FGFR3)基因突变筛查,以判定患者是否为软骨发育不全,同时验证中国人群中FGFR3是否为引起软骨发育不全的致病基因。方法提取9例患者及父母的外周血液DNA,并针对FGFR3外显子10序列设计引物,进行PCR扩增、纯化,并对PCR扩增产物进行毛细管电泳测序。结果 9例患者的FGFR3基因第10外显子1138位点均发生了G>A碱基转换,使得其所编码蛋白FGFR3的第380位氨基酸由甘氨酸(Gly)变为精氨酸(Arg)。结论通过毛细管测序,9例患者均可以确诊为软骨发育不全,同时也验证了在中国人群中FGFR3基因是导致软骨发育不全的致病基因,G1138A为热点突变。Objective Mutations of Fibroblast Growth Factor Receptor 3 （FGFR3） is detected by sequencing Ior 9 ACH patients and their parents. Simultaneously it is verifie whether FGFR3 is the cause-diseasing gene caused the Achondroplasia in chinese poeple. Methoak Genomic DNA from nine patients with ACFI and their parents was prepared for PeR. A set of primers were designed to amplify the exon 10 by PCR. Products of PCR are purified and capillary sequencing. Re.fit Mutations are detected in 9 patients with ACH, all of which are c.1138 G〉A in Exon 10 of FGFR3. These mutations make the amino acid at position 380 of the FGFR3 protein change from glycine （Gig） to arginine （Arg）. Conclusion By capillary sequencing, 9 patients can be diagnosed with achondroplasia, and FGFR3 gene also is verified disease-causing genes caused achondroplasia in the chinese poeple. The c.1138 G〉A in Exon 10 is the hotspot mutation for achondroplasia.

关 键 词：软骨发育不全 基因突变 成纤维生长因子受体3(fibroblast growth factor receptor 3) 毛细管测序 

分 类 号：R681.3[医药卫生—骨科学] Q343.13[医药卫生—外科学]