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Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution
Han, F; Lin, B; Xu, Q; Shen, Y; Wu, G
关键词Capillary Electrophoresis Phenylketonuria Gene Diagnosis
刊名CHROMATOGRAPHIA
1999-02-01
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
关键词[WOS]PHENYLALANINE-HYDROXYLASE GENE ; DNA RESTRICTION FRAGMENTS ; PRENATAL-DIAGNOSIS ; SEPARATION ; RESOLUTION ; POLYMORPHISM ; PRODUCTS
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.
语种英语
WOS记录号WOS:000078752700011
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被引频次:8[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://cas-ir.dicp.ac.cn/handle/321008/138562
专题中国科学院大连化学物理研究所
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
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GB/T 7714
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.
APA Han, F,Lin, B,Xu, Q,Shen, Y,&Wu, G.(1999).Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution.CHROMATOGRAPHIA,49(3-4),179-184.
MLA Han, F,et al."Gene diagnosis of phenylketonuria by capillary electrophoresis in a novel nongel sieving polymer solution".CHROMATOGRAPHIA 49.3-4(1999):179-184.
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