Globozoospermia is associated with chromatin structure abnormalities

Globozoospermia is associated with chromatin structure abnormalities
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DOI:
10.1093/humrep/17.8.2128
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发表时间:
2002-08-01
期刊:
影响因子:
6.1
通讯作者:
Calogero, AE
Calogero, AE
中科院分区:
医学1区
文献类型:
--
作者:
Vicari, E;Perdichizzi, A;Calogero, AE

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最近的一项研究显示,一名球状精子症患者的精子染色质结构正常。然而,使用这种精子进行卵胞浆内单精子注射(ICSI)后成功率很低,这表明可能存在精子核异常。我们报告了一例100%圆头精子患者的精子DNA完整性和染色体非整倍体及二倍体率的研究。DNA经碘化丙啶染色后,用流式细胞仪检测精子染色质包装质量。用末端脱氧核苷酸转移酶介导的荧光素dUTP缺口末端标记法(TUNEL)通过流式细胞术检测DNA片段化,可能是细胞凋亡的标志。用8、12、18、X和Y染色体的α着丝粒探针进行荧光原位杂交检测精子染色体非整倍体和二倍体率。结果显示,球型精子症患者的精子染色质去凝集阳性率(35+/-1.1%)和TUNEL法阳性精子数(37+/-1.7%)显著高于正常对照组(4.7+/-0.4%和22.5+/-1.2%)。相比之下,所研究的染色体的总非整倍体率(0.16%)和二倍体率(0.05%)都在14名正常精子症男性的范围内。据我们所知,这是第一例圆头精子的病例报告,显示出染色质结构异常和DNA链断裂的精子数量增加。
A recent study has shown normal sperm chromatin structure in a patient with globozoospermia. However, the poor success rate following intracytoplasmic sperm injection (ICSI) with the use of this sperm suggests that sperm nuclear abnormalities may be present. We report here a study of the sperm DNA integrity and chromosome aneuploidy and diploidy rates of a patient with 100% round-headed sperm. The sperm chromatin packaging quality was assessed by using flow cytometry after staining the DNA with propidium iodide. DNA fragmentation, possibly indicative of apoptosis, was evaluated by flow cytometry using the terminal deoxynucleotidyl transferase-mediated fluorescein-dUTP nick-end labelling (TUNEL) assay. The sperm chromosome aneuploidy and diploidy rates were evaluated by fluorescence in-situ hybridization using alpha-centromeric probes for chromosomes 8, 12, 18, X and Y. The patient with globozoospermia had a significantly higher number of sperm with chromatin decondensation (35 +/- 1.1%) and positive for the TUNEL assay (37 +/- 1.7%) compared with that found in four normal controls (4.7 +/- 0.4 and 22.5 +/- 1.2% respectively). In contrast, the total sperm aneuploidy (0.16%) and diploidy (0.05%) rates for the chromosomes studied were within the range found in 14 normozoospermic men. To the best of our knowledge, this is the first case report of round-headed sperm that has shown an elevated number of sperm with abnormal chromatin structure and DNA strand breaks.