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携带结构重排染色体患者精子DNA片段化的动态变化

Dynamics of sperm DNA fragmentation in patients carrying structurally rearranged chromosomes.

作者信息

García-Peiró A, Oliver-Bonet M, Navarro J, Abad C, Guitart M, Amengual M J, Gosálvez J, Benet J

机构信息

Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Bellaterra, Spain.

出版信息

Int J Androl. 2011 Dec;34(6 Pt 2):e546-53. doi: 10.1111/j.1365-2605.2011.01153.x. Epub 2011 Apr 28.

DOI:10.1111/j.1365-2605.2011.01153.x
PMID:21535010
Abstract

This investigation was conducted to assess the baseline level of sperm DNA fragmentation (SDF) in a cohort of patients presenting chromosomal rearrangements (nine reciprocal translocations and two inversions). In a separate experiment, a dynamic analysis to calculate the rate of SDF (rSDF), after a varying period of sperm storage (0 h, 1 h, 4 h, 8 h and 24 h) at 37 °C, was performed. Results were compared with eight fertile donors. Different experimental approaches to assess SDF, such as terminal transferase dUTP nick-end labelling (TUNEL), sperm chromatin structure assay (SCSA) and sperm chromatin dispersion test (SCDt), were used. No differences for the baseline level of SDF were found. Carriers of reorganized genomes showed statistically higher levels of SDF than did control donors (p = 0.025 for TUNEL; p = 0.022 for SCSA; p = 0.014 for SCDt). However, 54.5% (6/11) of the patients presented values similar to those of control donors. There was no significant difference in rSDF (p = 0.34). Nevertheless, the results suggest that a high variability for SDF and rSDF exists in these patients. Routine analysis of SDF and rSDF should be considered in patients presenting rearranged genomes to determine fertility status for assisted reproductive techniques (ART) purposes.

摘要

本研究旨在评估一组患有染色体重排(9例相互易位和2例倒位)患者的精子DNA片段化(SDF)基线水平。在另一项实验中,对精子在37℃下储存不同时间段(0小时、1小时、4小时、8小时和24小时)后的SDF率(rSDF)进行了动态分析。结果与8名生育力正常的供者进行了比较。采用了不同的实验方法来评估SDF,如末端脱氧核苷酸转移酶介导的dUTP缺口末端标记法(TUNEL)、精子染色质结构分析(SCSA)和精子染色质扩散试验(SCDt)。未发现SDF基线水平存在差异。基因组重组携带者的SDF水平在统计学上高于对照供者(TUNEL法p = 0.025;SCSA法p = 0.022;SCDt法p = 0.014)。然而,54.5%(6/11)的患者呈现出与对照供者相似的值。rSDF无显著差异(p = 0.34)。尽管如此,结果表明这些患者的SDF和rSDF存在高度变异性。对于基因组发生重排的患者,应考虑对SDF和rSDF进行常规分析,以确定辅助生殖技术(ART)目的的生育状况。

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