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先天性重排及人类精子染色体中的脆性位点与断点

Fragile sites and breakpoints in constitutional rearrangements and in human sperm chromosomes.

作者信息

Fuster C, Miró R, Templado C, Barrios L, Moreno V, Egozcue J

机构信息

Department de Biologia Cellular i Fisiologia, Subunitat de Biologia, Facultat de Medicina, Bellaterra, Spain.

出版信息

Hum Genet. 1989 Jul;82(4):330-4. doi: 10.1007/BF00273992.

Abstract

Recently, it has been suggested that an association exists between breakpoints involved in constitutional rearrangements and fragile sites; however, statistical analyses of this relationship are controversial. We have analyzed 1200 breakpoint from different constitutional rearrangements, 1522 breakpoints with respect to their recurrence and 217 breakpoints from sperm chromosomes as reported by several authors. The coincidence between breakpoints and fragile sites was 35.3%, 43.6% and 41.9% respectively. The statistical significance of these coincidences depends on whether factors such as the relative length of the bands or the recurrence of the rearrangements are taken into account.

摘要

最近,有人提出,染色体组重排中涉及的断点与脆性位点之间存在关联;然而,这种关系的统计分析存在争议。我们分析了来自不同染色体组重排的1200个断点、1522个关于其复发情况的断点以及几位作者报告的来自精子染色体的217个断点。断点与脆性位点之间的重合率分别为35.3%、43.6%和41.9%。这些重合的统计显著性取决于是否考虑了诸如带的相对长度或重排的复发等因素。

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