对两例人类相互易位的减数分裂研究及其与生精障碍的关联。

Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure.

作者信息

Oliver-Bonet M, Benet J, Sun F, Navarro J, Abad C, Liehr T, Starke H, Greene C, Ko E, Martin R H

机构信息

University of Calgary, Department of Obstetrics and Gynecology, Faculty of Medicine, University of Calgary, Calgary T2N 4N1, Canada.

出版信息

Hum Reprod. 2005 Mar;20(3):683-8. doi: 10.1093/humrep/deh654. Epub 2005 Feb 2.

DOI:10.1093/humrep/deh654

PMID:15689348

Abstract

BACKGROUND

Reciprocal translocations are often associated with infertility in male carriers. However, some carriers present normal semen profiles and are identified because of repetitive pregnancy failures.

METHODS

Here, we report two different cases of reciprocal translocations. The first patient carried a t(10;14) and was normozoospermic. The second patient carried a t(13;20) and was azoospermic. Synaptonemal complexes from both carriers were analysed using immunocytogenetic techniques and multi-centromere fluorescent in situ hybridization (cenM-FISH).

RESULTS

Associations between the quadrivalent and the sex body or other autosomes were seen only in the t(13;20) carrier. Heterosynapsis was observed only in the t(10;14) carrier. Synaptic pairing abnormalities were seen in 71% of the spreads in the t(13;20) carrier and 30% of the spreads in the t(10;14) carrier. Recombination frequency was decreased in the t(13;20) carrier, but not in the t(10;14) carrier.

CONCLUSIONS

By comparing these two different translocation carriers with different fertility outcomes, we discuss the possible mechanisms by which translocations might cause the spermatogenesis process to fail.

摘要

背景

相互易位常与男性携带者的不育相关。然而，一些携带者精液参数正常，因反复妊娠失败而被发现。

方法

在此，我们报告两例不同的相互易位病例。首例患者携带t(10;14)，精液正常。第二例患者携带t(13;20)，无精子症。使用免疫细胞遗传学技术和多着丝粒荧光原位杂交（cenM-FISH）分析了两位携带者的联会复合体。

结果

仅在携带t(13;20)的患者中观察到四价体与性体或其他常染色体之间的关联。仅在携带t(10;14)的患者中观察到异源联会。在携带t(13;20)的患者中，71%的涂片出现突触配对异常，在携带t(10;14)的患者中，30%的涂片出现突触配对异常。携带t(13;20)的患者重组频率降低，但携带t(10;14)的患者未降低。