Department of Cytogenetics and Reproductive biology, Farhat Hached, University Teaching Hospital, Tunisia.
Andrologia. 2012 Apr;44(2):130-5. doi: 10.1111/j.1439-0272.2010.01115.x. Epub 2011 Jun 30.
The aim of this study was to analyse the meiotic segregation and DNA fragmentation rates in ejaculated spermatozoa of Tunisian men who presented the macrocephalic sperm head syndrome and to compare the results with those from 20 fertile men with normal semen profiles. Sperm DNA fragmentation was evaluated by the terminal desoxynucleotidyl transferase-mediated deoxyuridine triphosphate biotin nick-end labelling assay. Fluorescence in situ hybridisation for chromosomes X, Y and 18 was performed for the study of meiotic segregation. Despite a normal blood karyotype, patients with large-headed spermatozoa showed a significantly higher incidence of sperm chromosomal abnormalities compared with the control group. For all the patients, tetraploidy, triploidy and diploidy were the most observed abnormalities. A very high level of DNA fragmentation was shown for these patients. In conclusion, our results demonstrated that patients with large-headed, multiple-tailed spermatozoa had significantly higher incidence of sperm chromosomal abnormalities and very high level of DNA fragmentation. So intracytoplasmic sperm injection should not be recommended to these patients, not only because of its low chances of success rate but also because of its high genetic risk.
本研究旨在分析患有大头精子头部综合征的突尼斯男性射出精子的减数分裂分离和 DNA 碎片化率,并将结果与 20 名具有正常精液特征的生育男性进行比较。通过末端脱氧核苷酸转移酶介导的脱氧尿苷三磷酸生物素缺口末端标记法评估精子 DNA 碎片化。荧光原位杂交用于研究 X、Y 和 18 号染色体的减数分裂分离。尽管血液核型正常,但大头精子患者的精子染色体异常发生率明显高于对照组。对于所有患者,四倍体、三倍体和二倍体是最常见的异常。这些患者的 DNA 碎片化水平非常高。总之,我们的研究结果表明,大头、多尾精子患者的精子染色体异常发生率明显较高,且 DNA 碎片化水平非常高。因此,不建议这些患者进行胞浆内精子注射,不仅因为其成功率低,而且因为其遗传风险高。