摘要
目的:应用苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因的短串联重复序列(short tandem repeats,STR)连锁分析结合基因序列分析对经典型苯丙酮尿症(phenylketonuria,PKU)进行产前基因诊断。方法:提取3个家系中苯丙酮尿症患儿及其父母的外周血和胎儿羊水细胞DNA,采用PAH基因STR连锁分析结合基因序列分析的方法进行产前基因诊断。结果:3个家系均通过上述方法进行了精确的产前基因诊断,3例胎儿均不是经典型苯丙酮尿症患儿,出生后新生儿筛查证实为健康个体。结论:采用STR连锁分析结合基因序列分析的方法可为经典型苯丙酮尿症家系进行快速、准确的产前基因诊断。
Objective：To perform prenatal diagnosis of the classic phenylketonuria（PKU）by the combined method of linkage analysis of short tandem repeat（STR）and gene sequencing in phenylketonuria hydroxylase（PAH）gene.Methods：DNA was extracted respectively from the blood samples of three family members with classic form of PKU and amniotic fluid of three embryos.Prenatal diagnosis was conducted by the linkage analysis of STR and gene sequencing of PAH gene.Results：Accurate prenatal diagnosis was completed in all the three families.As a result,three normal fetuses were reserved.The diagnosis was confirmed by biochemical tests in new-born.Conclusion：Prenatal diagnosis for classic PKU can be achieved by the linkage analysis of STR and gene sequencing of PAH gene.
出处
《现代妇产科进展》
CSCD
北大核心
2011年第10期773-776,共4页
Progress in Obstetrics and Gynecology
