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人类一种遗传性X连锁血清系统;Xm系统。

An inherited X-linked serum system in man; the Xm system.

作者信息

Berg K, Bearn A G

出版信息

J Exp Med. 1966 Feb 1;123(2):379-97. doi: 10.1084/jem.123.2.379.

Abstract

The detection of an inherited X-linked serum system in man, disclosed by a heteroantisenim made specific by absorption, is described. These studies suggest that the antigen, demonstrated by the specific antiserum, resides in the alpha(2)-macroglobulin fraction of serum. The system has been named the Xm system, where X refers to the localization of the gene on the X chromosome, and the m indicates that the antigen is part of the alpha(2)-macroglobulin fraction. The distribution of phenotypes in unrelated individuals from 4 populations, as well as studies performed in families are consistent with an X-linked dominant mode of inheritance. One Xm(a-) daughter was found in a family where the father was Xm(a+). This finding is discussed with particular reference to the possible influence of sex and age on the development of the phenotype. This common X-linked marker is likely to prove useful in mapping the human X chromosome.

摘要

本文描述了通过吸收法制备的特异性异种抗血清所揭示的人类遗传性X连锁血清系统的检测。这些研究表明,由特异性抗血清所证明的抗原存在于血清的α(2)-巨球蛋白部分。该系统被命名为Xm系统,其中X表示基因在X染色体上的定位,m表示该抗原是α(2)-巨球蛋白部分的一部分。来自4个人群的无关个体的表型分布以及在家族中进行的研究与X连锁显性遗传模式一致。在一个父亲为Xm(a+)的家庭中发现了一个Xm(a-)女儿。特别参考性别和年龄对表型发育的可能影响对这一发现进行了讨论。这种常见的X连锁标记可能会被证明对绘制人类X染色体图谱有用。

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