Crouzon综合征基因突变检测  

FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient

作　　者：郭璐[1] 赖燕妮[1] 李连喜[1] 胡海英[1] 杨志红[1] 李益明[1] 周丽诺[1] 胡仁明[1] 

机构地区：[1]复旦大学附属华山医院内分泌科,上海200040

出　　处：《中华医学遗传学杂志》2008年第2期218-220,共3页Chinese Journal of Medical Genetics

基　　金：国家“973”课题项目（2002CB713703）

摘　　要：目的研究1个Crouzon综合征家系及1例散发的Crouzon综合征患者的成纤维生长因子受体2（flbroblast growth factors receptor 2，FGFR2）基因突变情况。方法在1个Crouzon综合征家系的10名成员，和另一例散发者的外周血提取基因组DNA，PCR扩增FGFR2基因的第8和10外显子（部分家族成员仅扩增第8外显子），产物纯化后直接进行DNA测序检测突变。结果家系中3名成员及另1例散发者FGFR2基因第8外显子的833位核苷酸发生G→T的转换突变，该突变为错义突变，使该位点所编码的氨基酸由半胱氨酸变为苯丙氨酸（C278F）。该突变为杂合子突变。结论FGFR2基因突变是Crouzon综合征致病原因。Objective To detect the gene mutation of fibroblast growth factor receptor（FGFR2）in a Crouzon syndrome family and a sporadic patient. Methods The genomic DNA from 10 members in the Crouzon syndrome family, as well as a sporadic patient, was extracted. Then exons 8 and 10 of FGFR2 gene and their flanking sequences were amplified by polymerase chain reaction. Some of the family members were studied by only amplifying exon 8. Finally, the PCR products were purified and sequenced. Results The G to T transversion mutation （heterozygote） at nucleotide 833 in exon 8 of FGFR2 （C278F）, was found both in the patients of the family and the sporadic patient. Conclusion FGFR2 gene mutation is responsible for the pathogenesis of Crouzon syndrome in these patients.

关 键 词：CROUZON综合征 成纤维生长因子受体2 基因突变 

分 类 号：R686[医药卫生—骨科学]