[一个患有克鲁宗综合征的家族及一名散发型克鲁宗综合征患者中的FGFR2基因突变]
[FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient].
作者信息
Guo Lu, Lai Yan-ni, Li Lian-xi
机构信息
Department of Endocrinology, Huashan Hospital, Fudan University, Shanghai, 200040 P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Apr;25(2):218-20.
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.
目的
检测一个克鲁宗综合征家系及一名散发患者中成纤维细胞生长因子受体（FGFR2）的基因突变情况。
方法
提取克鲁宗综合征家系中10名成员以及一名散发患者的基因组DNA。然后通过聚合酶链反应扩增FGFR2基因的第8和第10外显子及其侧翼序列。部分家系成员仅扩增第8外显子进行研究。最后对PCR产物进行纯化及测序。
结果
在该家系患者及散发患者中均发现FGFR2第8外显子833位核苷酸发生了G到T的颠换突变（杂合子）（C278F）。
结论
FGFR2基因突变是这些患者发生克鲁宗综合征的致病原因。
Zotero 插件