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一名男性杂合子存在两个臂间倒位时的环形成和突触调整

Loop formation and synaptic adjustment in a human male heterozygous for two pericentric inversions.

作者信息

Guichaoua M R, Delafontaine D, Taurelle R, Taillemite J L, Morazzani M R, Luciani J M

出版信息

Chromosoma. 1986;93(4):313-20. doi: 10.1007/BF00327589.

Abstract

Pachytene analysis was undertaken in an infertile male heterozygous for two pericentric inversions of chromosomes 1 and 9. The synaptic behaviour of the bivalent 1 inversion was the most informative. Analysis of the chromomere pattern combined with centromeric heterochromatin staining allowed precise description of synaptic initiation and extension leading to the homosynapsed loop. These techniques also allowed demonstration of the existence of heterosynapsis following alignment of the inverted segments. Non-homologous synapsed bivalents had the morphological aspects of straight bivalents with two distant blocks of centromeric heterochromatin. The numbering of the autosomal bivalent chromomeres at various successive phases of the inversion loop behaviour of bivalent 1 permitted us an alternative approach to the timing of pachytene.

摘要

对一名不育男性进行了粗线期分析,该男性对于1号和9号染色体的两个臂间倒位是杂合子。1号二价体倒位的联会行为提供的信息最多。对染色粒模式的分析结合着丝粒异染色质染色,使得对导致同源联会环的联会起始和延伸进行精确描述成为可能。这些技术还能够证明在倒位片段对齐后异源联会的存在。非同源联会的二价体具有直二价体的形态特征,带有两个相距较远的着丝粒异染色质块。对1号二价体倒位环行为在各个连续阶段的常染色体二价体染色粒进行编号,使我们能够采用另一种方法来确定粗线期的时间。

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