摘要
目的探讨利用一代测序技术检测成纤维细胞生长因子受体(F G F R 3)进行软骨发育不全(achondroplasis,ACH)的产前诊断的价值。方法利用聚合酶链反应(polymerase chain reaction,PCR)技术扩增FGFR3基因10号外显子,利用一代测序法对其进行分析,对2个临床确诊为ACH的患者以及3个ACH家系和3个产前三维B超显示胎儿骨骼发育异常的家系进行基因检测和产前诊断。结果两例临床确诊为软骨发育不全的患者为c.1183G>A的热点突变,6个产前诊断家系中,3个家系结果为阳性,3个家系结果为阴性。结论对FGFR3基因第10号外显子进行检测可以为ACH患者以及怀有疑似ACH胎儿的家庭提供诊断依据。
Objective：To explore the value of Sanger sequencing in the prenatal diagnosis of achondroplasia（ACH）. Methods：The hot mutation in exon 10 of FGFR3（fibroblast growth factor receptor 3） was amplified by polymerase chain reaction and analyses by Sanger Sequencing in patients and pregnancy fetus. Results：c.1183 G〉A（Gly380 Arg） heterozygous mutation of FGFR3 gene was observed in two patients who have been confirmed ACH by clinical examination. The hot mutation was found in three fetus while the other three fetus were negative. Conclusion：The molecular diagnosis of the exon 10 of FGFR3 gene is a useful method which can be used in prenataldiagnosis and provide results for genetic counseling.
作者
黎昱
徐盈
程璐
宋婷婷
郭芬芬
徐慧
张建芳
LI Yu et al(Department of Obstetrics and Gynecology, The First Affiliated Hospital of the Fourth Military Medical University, Shaanxi Xi＇ an 710032, China)
出处
《中国优生与遗传杂志》
2017年第10期25-27,共3页
Chinese Journal of Birth Health & Heredity
