| STR结合基因序列分析用于经典型苯丙酮尿症的产前基因诊断 |
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| 引用本文： | 张菁菁,孙云,蒋涛,许争峰.STR结合基因序列分析用于经典型苯丙酮尿症的产前基因诊断[J].现代妇产科进展,2011,20(10):773-776. |
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| 作者姓名： | 张菁菁 孙云 蒋涛 许争峰 |
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| 作者单位： | 南京医科大学附属南京市妇幼保健院产前诊断中心,南京,210004 |
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| 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。
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| 关 键 词： | 苯丙酮尿症 经典型 产前 基因诊断 |
Prenatal gene diagnosis in classic phenylketonuria by the combined method of linkage analysis of short tandem repeat and gene sequencing in phenylketonuria hydroxylase gene |
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| Zhang Jingjing,Sun Yun,Jiang Tao,et al..Prenatal gene diagnosis in classic phenylketonuria by the combined method of linkage analysis of short tandem repeat and gene sequencing in phenylketonuria hydroxylase gene[J].Current Advances In Obstetrics and Gynecology,2011,20(10):773-776. |
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| Authors: | Zhang Jingjing Sun Yun Jiang Tao |
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| Institution: | Zhang Jingjing,Sun Yun,Jiang Tao,et al.Center of Prenatal Diagnosis,Nanjing Maternity and Child Health Hospital Affiliated to Nanjing Medical University,Nanjing 210004 |
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| Abstract: | 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 thr... |
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| Keywords: | Phenylketonuria Classic Prenatal Gene diagnosis |
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