【摘要】 目的探讨成纤维细胞生长因子受体(fibroblast growth factor receptor 3,FGFR3)基因突变的靶向检测在软骨发育不全(achondroplasia,ACH)家系临床诊断与孕早期产前诊断中的应用。方法应用PCR产物限制性片段长度多态分析(PCR-restricted fragment length polymorphism,PCR-RFLP)与PCR产物直接测序的方法,对ACH家系中表型正常个体、2个ACH患者与家系中一孕10w胎儿的FGFR3基因第10外显子c.1138G>A(G380R)突变热点进行检测。结果ACH家系中患者均为c.1138G>A突变GA杂合子,而表型正常者及胎儿均为GG纯合子。检测结果经孕中晚期超声及出生后临床症状证实。结论采用PCR-RFLP结合DNA测序法进行孕早期FGFR3基因产前诊断并结合超声可有效避免ACH患儿的出生。更多还原

【Abstract】 Objective:To explore the genetic prenatal diagnosis in the first trimester of pregnancy in an achondroplasia(ACH) family by mutation analysing of achondroplasia fibroblast growth factor receptor 3(FGFR3) gene.Methods:The hot mutation in exon 10 of FGFR3 gene was detected by PCR-restricted fragment length polymorphism(PCR-RFLP)and DNA sequeneing in normal phenotype individuals,two achondroplasia patients and a ten-week pregnancy fetus.Results:c.1138G>A(G380R) mutation of FGFR3 gene was detected in two patients,while the normal phenotype individuals and the fetus showed two wild FGFR3 genes.The reliability of the test was confirmed by the ultrasound screening in the second and third trimester and the clinical symptoms after birth.Conclusion:PCR-RFLP and DNA sequening is sensitive to detect the mutation of FGFR3 gene and can be applied to prenatal genetic diagnosis in the first trimester of pregnancy for ACH patients,combining with ultrasound screening.更多还原