AZFc微缺失中不同gr/gr缺失亚型对精子发生的影响
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苏州市科技计划项目(SYS201356),Science and Technology Planning Project of Suzhou City(SYS201356)


Effect of gr/gr microdeletion in partial AZFc deletion on human spermatogenesis
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    目的 研究Y染色体AZFc部分缺失中不同类型gr/gr微缺失对精子发生的影响.方法 实验组选择少弱精子症患者278例,对照组选择符合卫生部标准的汉族合格的已捐精220例健康男性.所有受试者均采取外周血,抽取DNA,选择Y染色体序列标签点(STS),经多重PCR技术检测AZFc微缺失中的gr/gr缺失,对gr/gr缺失患者进一步检测gr/gr-DAZ1/DAZ2缺失和gr/gr-DAZ3/DAZ4缺失类型,对结果进行统计学分析.结果 实验组中278例患者,检测出gr/gr缺失27例,对照组中检测出gr/gr缺失17例,两组比较,差异无统计学意义;27例少弱精子症患者中gr/gr-DAZ1/DAZ2缺失23例,gr/gr-DAZ3/DAZ4缺失4例;正常精液组17例中gr/gr-DAZ1/DAZ2缺失1例,gr/gr-DAZ3/DAZ4缺失16例,两组相比,具有统计学差异(P<0.05).结论 汉族人群中AZFc微缺失中不同gr/gr缺失亚型在精子发生中所扮演的角色可能不同,gr/gr-DAZ1/DAZ2缺失可能是精子发生障碍的危险因素之一.

    Abstract:

    Objectives To inverstigate the effect of gr/gr subdeletion in partial AZFc deletion on human spermatogenesis.Methods We assessed The prevalence of gr/gr deletion in a population of both normospermic and infertile men with severe impairment of spermatogenesis were assessed,the contribution of these gr/gr deletion to male infertility was determined.A combined methodological approach that included the detection of the different DAZ gene copies by sequence nucleotide variant (SNV) analysis and AZFc-specific sequence tagged site (STS) markers was used.Results Type of gr/gr deletion was detected in 27 cases of 278 males with oligozoospermic and 17 cases of 220 donors.There was no difference in the prevalence of gr/gr deletion comparing oligozoospermic and normospermic groups (P =0.438).Of the 27 men with the gr/gr deletion,23 cases exhibited the doublet deletion of DAZ1/DAZ2 and 1 case showed the DAZ3/DAZ4 deletion.In the normozoospermic population,16 cases of gr/gr-DAZ3/DAZ4 deletions and one gr/gr-DAZ1/DAZ2 deletion were found.There was a significant difference when comparing gr/gr-DAZ1/DAZ2 deletions vs.gr/gr-DAZ3/DAZ4 deletions in the oligozoospermic and normospermic groups (P =0.000).Conclusions The gr/gr-DAZ3/DAZ4 deletion may not be sufficient to cause spermatogenic impairment.In addition,gr/gr microdeletions,which involve the DAZ1/DAZ2 region,may be a main cause of low sperm concentration and spermatogenic failure in the south chinese population.

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引用格式: 李权,曹文舟,谢建军,邵强,王亚民,宋宁宏,沈华. AZFc微缺失中不同gr/gr缺失亚型对精子发生的影响[J].国际泌尿系统杂志,2016,(6):887-891.

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