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结构重排患者交换点的非随机分布。

Nonrandom distribution of exchange points in patients with structural rearrangements.

作者信息

Nakagome Y, Chiyo H

出版信息

Am J Hum Genet. 1976 Jan;28(1):31-41.

Abstract

High resolution studies of structural rearrangements were carried out using the G-band technique. A total of 220 breakage points were identified within individual bands from 117 unrelated cases born with a structural rearrangement. Breakage points were not evenly distributed along chromosomes in terms of G-band patterns. There was an excess involvement of light bands and a striking lack of dark bands in both reciprocal translocations and inversions. In reciprocal translocations, the middle part of a chromosome arm has less chance of being the site of an exchange than the terminal and centromeric parts. The implications of these results are briefly discussed.

摘要

利用G带技术对结构重排进行了高分辨率研究。在117例出生时患有结构重排的无关病例的各个带内共确定了220个断裂点。就G带模式而言,断裂点在染色体上分布不均。在相互易位和倒位中,浅带受累过多,深带明显缺乏。在相互易位中,染色体臂的中部比末端和着丝粒部分成为交换位点的机会更少。简要讨论了这些结果的意义。

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