4例软骨发育不全患者FGFR3基因突变检测  

Detection FGFR3 Gene Mutation in Four Achondroplasia Patients

作　　者：尹小丽[1,2] 鲁艳芹[2] 代运章[1,2] 张遥 马翔[1,2] 韩金祥[2] YIN Xiao-li;LU Yan-qin;DAI Yun-zhang(School of Medicine and Life Sciences,University of Jinan-Shandong Academy of Medical Sciences,Jinan 250022,Shandong Province,Chin)

机构地区：[1]济南大学,山东省医学科学院医学与生命科学学院,山东济南250200 [2]山东省罕少见病重点实验室,山东省医药生物技术研究中心,山东省医学科学院,山东济南250062

出　　处：《罕少疾病杂志》2018年第2期1-3,共3页Journal of Rare and Uncommon Diseases

基　　金：山东省重大关键技术(2016ZDJS07A10)

摘　　要：目的对4例临床诊断为软骨发育不全(ACH)患者进行成纤维细胞因子受体3(FGFR3)基因突变检测。方法提取4例患者及父母外周血DNA,设计FGFR3基因外显子10的引物序列,应用聚合酶链反应(PCR)扩增,并对扩增产物进行测序,通过Mutation Survey软件分析突变位点。结果 4例ACH患者均存在FGFR3基因第10外显子1138位点G>A碱基转换,导致FGFR3的第380位氨基酸由甘氨酸(Gly)变为精氨酸(Arg)。结论 FGFR3基因10号外显子c.1138G>A的杂合突变是造成ACH的主要致病原因,FGFR3基因突变检测为产前基因诊断提供了实验依据。Objective To detect the firbroblast growth factor receptor3（FGFR3） mutation in 4 patients with achondroplasia（ACH）.Methods Whole genomic DNA was extracted from peripheral blood of 4 ACH patients and their parents. Exon 10 of FGFR3 gene was amplified by PCR and then was sequenced by traditional Sanger sequencing. Sequencing results was analyzed by Mutation survey software. Results Substitution of c.1138 GA（Gly 380 Arg） in FGFR3 was found in all 4 ACH patients. Conclusion As reported, The GA transition mutation at nucleotide position 1138 in exon 10 of FGFR3 gene is the main cause of achondroplasia. Mutation detection of FGFR3 gene provides an experimental basis for prenatal gene diagnosis.

关 键 词：软骨发育不全 成纤维生长因子受体3(FGFR3) 基因突变 

分 类 号：R681.3[医药卫生—骨科学]