| 应用等位基因特异性扩增检测经典型苯丙酮尿症PAH基因第6外显子基因突变 |
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| 引用本文： | 周永安,高伟华,李素云,张全斌,刘建平,杨建萍,张改秀,马云霞,张晓刚,郁梁. 应用等位基因特异性扩增检测经典型苯丙酮尿症PAH基因第6外显子基因突变[J]. 中国优生与遗传杂志, 2011, 0(10): 28-29,6 |
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| 作者姓名： | 周永安 高伟华 李素云 张全斌 刘建平 杨建萍 张改秀 马云霞 张晓刚 郁梁 |
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| 作者单位： | 太原市中心医院中心实验室;山西医科大学;太原市中心医院妇产科;山西省妇幼保健院新生儿筛查中心;山西省妇幼保健院内分泌科; |
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| 基金项目： | 山西省科技攻关项目(20080311065); 山西省卫生厅资助项目(No.200705) |
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| 摘 要： | 目的建立快速简便、特异灵敏的鉴定PAH基因第6外显子c.611A〉G突变热点的基因诊断方法。方法针对突变频率较高的PAH基因第6外显子的突变热点c.611A〉G,设计等位基因特异性扩增（amplification refractory mutationsystem,ARMS）的特异引物,对山西省已经临床确诊的70例经典型PKU患儿、c.611A〉G突变患儿的家长及50例正常儿童进行第6外显子扩增,扩增产物测序验证。结果在受检的山西省患儿中,PAH基因第6外显子c.611A〉G突变位点ARMS检测结果和测序结果完全相符。结论 ARMS技术操作简便,重复性和稳定性好,可作为PAH基因热点突变的快速灵敏检测方法。
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| 关 键 词： | 苯丙酮尿症 第6外显子 等位基因特异性扩增（ARMS） 突变热点 基因诊断 |
Study on gene mutations in exon 6 of the phenylalanine hydroxylase(PAH) with classical phenylketonuria by the specific primers of allele specific amplification |
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| ZHOU Yong-an,GAO Wei-hua,LI Su-yun,et al.. Study on gene mutations in exon 6 of the phenylalanine hydroxylase(PAH) with classical phenylketonuria by the specific primers of allele specific amplification[J]. Chinese Journal of Birth Health & Heredity, 2011, 0(10): 28-29,6 |
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| Authors: | ZHOU Yong-an GAO Wei-hua LI Su-yun et al. |
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| Affiliation: | ZHOU Yong-an1,GAO Wei-hua2,LI Su-yun3,et al.(1.Central Laboratory of Taiyuan City Central Hospital,Taiyuan,Shanxi,030009,P.R.China,2.Graduate of Clinical Laboratory Diagnostics of Shanxi Medical University,030001,3.Department of Obstetrics and Gynecology,Taiyuan City Central Hospital,030009) |
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| Abstract: | Objective: Establishment of the simple,rapid,specific and sensitive genetic diagnosis methods: for c.611A>G of exon 6 of PAH.Methods: For the hot mutation spot c.611A>G,we designed the specific primers of amplification refractory mutation system(ARMS),70 patients with phynelketonuria,patients with their children mutationed in c.611A>G,and 50 normal children were include in the study.Exon 6 amplified products were sequenced.Results: The result of mutation spot of c.611A>G in exon 6 with the ARMS test are com... |
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| Keywords: | Phenylketonuria Exon 6 ARMS Mutational hotspot Gene Diagnosis |
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