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通过等电聚焦检测到转铁蛋白系统中的第三个常见等位基因TfC3。

A third common allele in the transferrin system, TfC3, detected by isoelectric focusing.

作者信息

Kühnl P, Spielmann W

出版信息

Hum Genet. 1979;50(2):193-8. doi: 10.1007/BF00390241.

Abstract

Further genetic heterogeneity of the transferrin system (Tf) was revealed by prolonged isoelectric focusing (PAGIF) of human sera on polyacrylamide gels (pH 4--6.5). One of the two common subtypes of TfC, designated previously as TfC1, is split into TfC1 and the new subtype, TfC3. The gene product of TfC3 has an isoelectric point between C1 and C2. In our sample (n = 252) seven phenotypes, TfC1, C2-1, C2, C3-1, C3-2, C3, and C1B2, were observed and the following frequencies calculated: TfC1 = 0.795, TfC2 = 0.155, TfC3 = 0.042, and TfB2 = 0.008. Family studies (n = 25) indicate an autosomal codominant mode of inheritance. The six TfC phenotypes are present after treatment of sera with neuraminidase and can be revealed in part by PAGIF and subsequent immunofixation.

摘要

通过在聚丙烯酰胺凝胶(pH 4 - 6.5)上对人血清进行延长等电聚焦(PAGIF),揭示了转铁蛋白系统(Tf)进一步的遗传异质性。TfC的两种常见亚型之一,先前被指定为TfC1,被分为TfC1和新的亚型TfC3。TfC3的基因产物的等电点介于C1和C2之间。在我们的样本(n = 252)中,观察到了七种表型,即TfC1、C2 - 1、C2、C3 - 1、C3 - 2、C3和C1B2,并计算了以下频率:TfC1 = 0.795,TfC2 = 0.155,TfC3 = 0.042,TfB2 = 0.008。家系研究(n = 25)表明其遗传方式为常染色体共显性。用神经氨酸酶处理血清后会出现六种TfC表型,部分可通过PAGIF及随后的免疫固定法显示出来。

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