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人类失活X染色体上一个可能的活性片段。

A possible active segment on the inactive human X chromosome.

作者信息

Therman E, Sarto G E, Distèche C, Denniston C

出版信息

Chromosoma. 1976 Dec 16;59(2):137-45. doi: 10.1007/BF00328482.

Abstract

An idic(Xp--) in which the two X chromosomes are attached short arm to short arm, and which thus has two b regions (the Q-dark segment next to the centromere on Xp) between the inactivation centers, assumed to be situated on the Q-dark region next to the centromere on Xq, showed 63.8% bipartite Barr bodies as compared with 22.2% formed by idic(Xq--). In addition, the mean distance of the two parts of the Barr bodies in the fibroblasts of a patient with idic(Xp--) is significantly greater than in the cases with one or no b region. Contrary to the other patients with abnormal X chromosomes, the buccal cells of a woman idic(Xp--) showed a number of bipartite Barr bodies. -- To explain these observations we have put forward the hypothesis that the b region on the Xp always remains active and thus, when the rest of the chromosome forms a Barr body, this segment is extended, allowing the two parts of the X chromatin to get farther apart and at the same time increasing the percentage of bipartite bodies.

摘要

一条等臂双着丝粒染色体(Xp--),其两条X染色体短臂与短臂相连,因此在失活中心之间有两个b区(Xp上靠近着丝粒的Q暗带),假定失活中心位于Xq上靠近着丝粒的Q暗带上,与等臂双着丝粒染色体(Xq--)形成的22.2%相比,该染色体显示出63.8%的二分体巴氏小体。此外,一名等臂双着丝粒染色体(Xp--)患者的成纤维细胞中,巴氏小体两部分的平均距离显著大于有一个或没有b区的情况。与其他X染色体异常的患者相反,一名等臂双着丝粒染色体(Xp--)女性的颊细胞显示出一些二分体巴氏小体。——为了解释这些观察结果,我们提出了一个假说,即Xp上的b区始终保持活跃,因此,当染色体的其余部分形成巴氏小体时,这个片段会延伸,使X染色质的两部分分得更远,同时增加二分体的百分比。

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