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染色体平衡重排携带者的精子参数与DNA片段化

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers.

作者信息

Pastuszek Ewa, Kiewisz Jolanta, Kulwikowska Patrycja M, Lukaszuk Mariusz, Lukaszuk Krzysztof

出版信息

Folia Histochem Cytobiol. 2015;53(4):314-21. doi: 10.5603/fhc.a2015.0032.

Abstract

INTRODUCTION

Somatic chromosomal rearrangements that occur in infertile males are thought to be one of the major genetic factors influencing male infertility. The objective of this retrospective study was to evaluate sperm parameters in a group of patients with balanced translocations.

MATERIAL AND METHODS

We analyzed semen of 84 balanced somatic translocation carriers [35 Robertsonian translocation (RT group) and 49 reciprocal translocation (RCT group)] and 57 men with normal karyotype (control group). Semen samples were evaluated for sperm concentration, its motion parameters and vitality, round cell number (CASA) and DNA fragmentation index (TUNEL). Cytogenetic evaluation was also performed for each study participant.

RESULTS

Sperm concentrations were lower when comparing the RT group to the control (p < 0.001) and RCT groups (p < 0.05). Occurrence of abnormal sperm concentration was more common among RT carriers (74.3%) than in the other groups (42.9% in RCT group and 28.1% in control group). The sperm progressive motility and vitality in RT carriers (21.53% and 62.17%) were lower than in control group (39.77% and 77.47%, p < 0.001, respectively) and RCT carriers (31.47% and 76.17%, p < 0.001, respectively). The RCT carriers and the control group did not differ in regard to sperm concentration, progressive sperm motility, motility grade D and sperm vitality. There were no significant differences in DNA fragmentation in carriers of both studied structural chro­mosomal rearrangements in comparison to subjects with normal karyotype.

CONCLUSIONS

RT carriers had significantly lower semen parameters in comparison to not only the subjects with normal karyotypes but also the RCT carriers.

摘要

引言

不育男性中发生的体细胞染色体重排被认为是影响男性不育的主要遗传因素之一。这项回顾性研究的目的是评估一组平衡易位患者的精子参数。

材料与方法

我们分析了84名平衡体细胞易位携带者[35名罗伯逊易位(RT组)和49名相互易位(RCT组)]以及57名核型正常的男性(对照组)的精液。对精液样本进行精子浓度、运动参数和活力、圆形细胞数量(CASA)以及DNA碎片化指数(TUNEL)的评估。还对每位研究参与者进行了细胞遗传学评估。

结果

与对照组(p < 0.001)和RCT组(p < 0.05)相比,RT组的精子浓度较低。RT携带者中精子浓度异常的发生率(74.3%)高于其他组(RCT组为42.9%,对照组为28.1%)。RT携带者的精子前向运动能力和活力(分别为21.53%和62.17%)低于对照组(分别为39.77%和77.47%,p < 0.001)和RCT携带者(分别为31.47%和76.17%,p < 0.001)。RCT携带者和对照组在精子浓度、精子前向运动能力、D级运动能力和精子活力方面没有差异。与核型正常的受试者相比,两种研究的结构性染色体重排携带者的DNA碎片化没有显著差异。

结论

与不仅核型正常的受试者而且RCT携带者相比,RT携带者的精液参数显著更低。

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