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Gc系统的一种新的遗传性单带变异型。

A new hereditary single band variant of the Gc system.

作者信息

Nakasono I, Iwasaki M, Ogata M, Yoshitake T, Narita K, Kubo S, Suyama H, Tanoue Y

出版信息

Hum Genet. 1985;70(1):84-5. doi: 10.1007/BF00389466.

Abstract

A new single band variant (Gc Ar) or the Gc subtypes not identical with the known Gc variants has been detected in the plasma of a healthy blood donor by isoelectric focusing. Using this technique the variant is represented by a single band which has a similar isoelectric point to the Gc 1C2 anodal band. It is well known that the single band Gc phenotypes remain unaltered after neuraminidase treatment. Nevertheless, the new single band variant (Gc Ar) is altered after neuraminidase treatment as is Gc 2A3. After neuraminidase treatment, the Gc Ar band is affected and moved to the nearby position of the Gc 2 band. Investigation of the proband's family shows that the variant occurs combined with the common alleles Gc 1F, Gc 1S and that it has an autosomal dominant inheritance.

摘要

通过等电聚焦在一名健康献血者的血浆中检测到一种新的单带变体(Gc Ar)或与已知Gc变体不同的Gc亚型。使用该技术,该变体由一条单带表示,其等电点与Gc 1C2阳极带相似。众所周知,单带Gc表型在神经氨酸酶处理后保持不变。然而,新的单带变体(Gc Ar)在神经氨酸酶处理后会发生改变,Gc 2A3也是如此。神经氨酸酶处理后,Gc Ar带受到影响并移动到Gc 2带附近的位置。对先证者家族的调查表明,该变体与常见等位基因Gc 1F、Gc 1S一起出现,并且具有常染色体显性遗传。

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