一例致死性软骨发育不良胎儿的基因诊断

目的：建立一种致死性软骨发育不良的诊断方法。方法：采用聚合酶链反应-测序分析的方法,对1例超声提示致死性骨骼发育异常胎儿的成纤维细胞生长因子受体3（FGFR）基因上的R248C以及K650N位点的点突变进行检测。结果：在该例胎儿第15外显子1948位点发现了A到G的突变,导致TK2区第650位密码子赖氨酸被谷氨酸取代,从而导致Ⅱ型致死性发育不良。结论：产前基因诊断可快速、有效地对致死性软骨发育不良胎儿作出病因确诊和分型,防止患儿出生,真正实现优生。

One case of genetic diagnosis of fetus with thanatophoric dysplasia

Objective： To develop a method which can be used to diagnose thanatophoric dysplasia. Methods： To determine a fetus with abnormal results of ultrasound that showed thanatophoric, gene mutations R248C and K650N of the fibroblast growth factor receptor 3 gene were assayed by polymerase chain reaction-sequencing analysis. Re- suits： The fetus had G to A mutation at nueleotide 1948 in FGFR3, resulting in the replacement of glutamie acid with lysine at 650 codon of TK2 Zone. The fetus was type I1 of thanatophorie dysplasia. Conclusion： Prenatal ge- netic diagnosis can be applied to diagnose and classify thanatophoric dysplasia quickly and efficiently, to prevent the birth of children with diseases, and to give a good birth.