两个Crouzon综合征家系FGFR2基因突变检测  

Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome

作　　者：黄燕茹[1] 梅利斌[1] 苏薇[1] 杨璞[1] 梁德生[1] 邬玲仟[1] 潘乾[1] 

机构地区：[1]中南大学医学遗传学国家重点实验室,长沙410078

出　　处：《中华医学遗传学杂志》2014年第3期272-275,共4页Chinese Journal of Medical Genetics

基　　金：“十二五”国家科技支撑计划（2012BA109B05）;国家科技基础性工作专项（2013FY114300）;2013年中南大学研究生自主探索创新项目（2013zzts272）

摘　　要：目的研究两个Crouzon综合征家系患者的成纤维细胞生长因子受体2（fibroblastgrowthfactorreceptor2，FGFR2）基因的突变情况。方法在两个家系共20个成员的外周血抽提基因组DNA，PCR扩增FGFR2基因的18个外显子，产物纯化后进行DNA测序检测突变。结果家系1中2例患者FGFR2基因第8外显子存在e．868T〉C错义突变（P．W290R）。家系2中5例患者FGFR2基因第8外显子存在c．833G〉T错义突变（P．C278F）。结论FGFR2基因突变是导致2个Crouzon综合征家系的病因。在中国人群中尚未见C．868T〉C错义突变的报道。Objective To detect potential mutations of fibroblast growth factor receptor 2 gene （FGFR2） in two Chinese families with Crouzon syndrome. Methods Genomic DNA was extracted from peripheral blood leukocytes of 20 members from two affected families. All of the 18 exons of the FGFR2 gene were amplified with polymerase chain reaction and sequenced after purification. Results A missense mutation c. 868T〉C （p. W290R） in exon 8 of the FGFR2 gene was found solely in 2 affected members from family 1. Another missense mutation c. 833G〉T （p. C278F） in exon 8 was found solely in 5 affected members of family 2. Conclusion The missense mutations of the FGFR2 gene are responsible for the Crouzon syndrome in the two families. The c. 868T〉C missense mutation is reported for the first time in Chinese population.

关 键 词：CROUZON综合征 成纤维细胞生长因子受体2 基因突变 

分 类 号：R596[医药卫生—内科学]