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题名: Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution
作者: Han, F;  Lin, B;  Xu, Q;  Shen, Y;  Wu, G
关键词: capillary electrophoresis ;  phenylketonuria ;  gene diagnosis
刊名: CHROMATOGRAPHIA
发表日期: 1999-02-01
卷: 49, 期:3-4, 页:179-184
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology ;  Life Sciences & Biomedicine ;  Physical Sciences
类目[WOS]: Biochemical Research Methods ;  Chemistry, Analytical
研究领域[WOS]: Biochemistry & Molecular Biology ;  Chemistry
英文摘要: It is not possible to estimate DNA fragment lengths in undenatured buffer systems by the calibrating method because a conformation problem can occasionally predominate. Although some authors use urea as a denaturant to eliminate the influence of conformation on migration, they often experience the difficulty of loss of resolution. We have developed a novel sieving matrix with relatively low viscosity and good sieving ability, by which DNA standard PBR322/HaeIII could be separated satisfactorily. The influence of DNA conformation can also be eliminated in the same system: which makes it possible to estimate the length of a DNA fragment more precisely. Gene diagnosis and family linkage analysis of Phenylketonuria (PKU) was performed as an application. A four-base-pair difference in length of the phenylalanine hydroxylase (PAH) short-tandem repeat (STR) alleles could be separated and identified, which paved the way for diagnosis of PKU by capillary electrophoresis.
关键词[WOS]: PHENYLALANINE-HYDROXYLASE GENE ;  DNA RESTRICTION FRAGMENTS ;  PRENATAL-DIAGNOSIS ;  SEPARATION ;  RESOLUTION ;  POLYMORPHISM ;  PRODUCTS
语种: 英语
WOS记录号: WOS:000078752700011
Citation statistics: 
内容类型: 期刊论文
URI标识: http://cas-ir.dicp.ac.cn/handle/321008/138562
Appears in Collections:中国科学院大连化学物理研究所_期刊论文

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作者单位: 1.Chinese Acad Sci, Dalian Inst Chem Phys, Dalian 116023, Peoples R China
2.Chinese Acad Med Sci, Inst Basic Med, Beijing 100005, Peoples R China

Recommended Citation:
Han, F,Lin, B,Xu, Q,et al. Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution[J]. CHROMATOGRAPHIA,1999,49(3-4):179-184.
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