摘要
目的探讨致死性侏儒Ⅰ型(thanatophoric dysplasia type 1,TD 1)的基因突变情况。方法经产前超声诊断的3例TD 1胎儿,用DNA测序法分析成纤维细胞生长因子受体3(fibroblast growth factor receptor 3,FGFR3)基因突变。结果3例TD 1胎儿均为FGFR3基因第7外显子742 C→T(R248C)杂合突变。结论对于临床怀疑TD1的病例,建议行R248C突变检查确诊。
Objective： To identify the gene mutation involved in the cause of thanatophoric dysplasia （TD）. Methods： Direct DNA sequencing analysis was used to determine the gene mutaions of fibroblast growth factor receptor 3 （FGFR3） in 3 fetuses with TD prenatally diagnosed by ultrasound. Results ： Molecular analyses of the FGFR3 gene in the present study revealed a R248C mutation in all 3 cases. Conclusion ： Since R248C is the most common mutation in TD1, molecular analysis of the FGFR3gene for this mutation is use- ful for rapid screening of fetuses with sonographic findings suggestive of TD.
出处
《中国优生与遗传杂志》
2007年第6期70-70,69,共2页
Chinese Journal of Birth Health & Heredity
关键词
致死性侏儒
产前诊断
成纤维细胞生长因子受体3
基因突变
Thanatophoric dysplasia
Prenatal diagnosis
Fibroblast growth factor receptor 3
Gene mutation
