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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。
Objective: To establish a method of diagnosis of lethal cartilage dysplasia. Methods: One case of point mutations in the R248C and K650N loci of fibroblast growth factor receptor 3 (FGFR) gene in fetus with lethal skeletal dysplasia was detected by polymerase chain reaction - sequencing analysis. RESULTS: Mutations A to G were found at position 1948 of exon 15 of the fetus, resulting in the substitution of glutamic acid at codon 650 of codon 650 in TK2 region, resulting in type II lethal hypoplasia. Conclusion: Prenatal genetic diagnosis can quickly and effectively diagnose and classify the cause of fatal cartilage dysplasia to prevent the birth of the child and truly achieve eugenics.