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固定化pH梯度等电聚焦在法医血液遗传学中的应用:关于转铁蛋白(TF)和α1-抗胰蛋白酶(PI)系统三年经验的调查

Application of immobilized pH gradient isoelectric focusing to forensic hemogenetics: a survey on a three year experience with the transferrin (TF) and alpha 1-antitrypsin (PI) systems.

作者信息

Skoda U, Fassbender L, Händler C, Mauff G, Pulverer G

机构信息

Hygiene-Institut der Universität, Köln, Federal Republic of Germany.

出版信息

Electrophoresis. 1988 Sep;9(9):606-9. doi: 10.1002/elps.1150090924.

Abstract

The subtypes of transferrin (TF) and alpha 1-antitrypsin (PI), first discovered using isoelectric focusing, are now mostly determined in immobilized pH gradient gels. We report on our experience in the parentage expertise with both polymorphisms over a period of three years. The complexity of the technology was compensated by the fact that most subtypes of TF and PI could be more reliably recognized. The PI alleles PIM1, M2, M3, S, F, T, and Z and TF alleles TFC1, C2 and C3, and in addition four further rare TF alleles were observed. The allele frequencies from non-related individuals did not deviate from the Hardy-Weinberg equilibria and corresponded well to known frequencies from West Germany and other Caucasoid populations. With the TF system 36 accused men, and with the PI system 54 were excluded from paternity from a total of 344 (TF) respectively 347 (PI) cases. From the data presented here isoelectric focusing in immobilized pH gradient gels appears to be a major improvement over carrier ampholyte generated pH gradients in the distinction of TF and PI phenotypes.

摘要

转铁蛋白(TF)和α1 -抗胰蛋白酶(PI)的亚型最初是通过等电聚焦发现的,现在大多在固定化pH梯度凝胶中进行测定。我们报告了在三年时间里利用这两种多态性进行亲子鉴定的经验。TF和PI的大多数亚型能够更可靠地识别,这弥补了该技术的复杂性。观察到PI等位基因PIM1、M2、M3、S、F、T和Z以及TF等位基因TFC1、C2和C3,此外还有另外四个罕见的TF等位基因。无关个体的等位基因频率未偏离哈迪 -温伯格平衡,与西德和其他高加索人群的已知频率相符。在总共344例(TF)和347例(PI)案例中,分别有36名被指控男子通过TF系统、54名通过PI系统被排除亲子关系。从这里给出的数据来看,在区分TF和PI表型方面,固定化pH梯度凝胶中的等电聚焦似乎比载体两性电解质产生的pH梯度有了重大改进。

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Subtyping of transferrin by isoelectric focusing in immobilized pH gradients.
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