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德国的转铁蛋白亚型和变体;Tf无效等位基因的进一步证据。

Transferrin subtypes and variants in Germany; further evidence for a Tf null allele.

作者信息

Weidinger S, Cleve H, Schwarzfischer F, Postel W, Weser J, Görg A

出版信息

Hum Genet. 1984;66(4):356-60. doi: 10.1007/BF00287641.

Abstract

Isoelectric focusing (IEF) with carrier ampholytes was used for the determination of transferrin C subtypes and transferrin B and D variants in a sample of 1125 unrelated individuals from Southern Germany. The observed TfC allele frequencies were TfC1 = 0.7872, TfC2 = 0.1365, and Tf*C3 = 0.0675. The rare C subtype C6 was observed twice. A new C subtype, called C10, was observed and identified by IEF with immobilized pH gradients. The rare C subtypes C4 and C8 were also studied by this method. TfB and TfD variants were found with a heterozygous frequency of 1.53%. One new TfD was found which is located between D1 and D2 and therefore named D1-2. Evidence for a Tf null allele was obtained in a child and the putative father; they were considered to be heterozygous for an allele Tf0. The theoretical exclusion rate for paternity examinations was calculated for the Tf system and found to be 17.95%.

摘要

采用载体两性电解质等电聚焦法(IEF),对来自德国南部的1125名无亲缘关系个体的样本进行转铁蛋白C亚型以及转铁蛋白B和D变异体的测定。观察到的转铁蛋白C等位基因频率为:TfC1 = 0.7872,TfC2 = 0.1365,以及Tf*C3 = 0.0675。罕见的C亚型C6观察到两例。通过固定化pH梯度的IEF观察并鉴定出一种新的C亚型,称为C10。还采用该方法研究了罕见的C亚型C4和C8。发现转铁蛋白B和D变异体的杂合频率为1.53%。发现一种新的转铁蛋白D,位于D1和D2之间,因此命名为D1-2。在一名儿童及其推定父亲中获得了转铁蛋白无效等位基因的证据;他们被认为是等位基因Tf0的杂合子。计算了转铁蛋白系统在亲子鉴定中的理论排除率,结果为17.95%。

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