Y染色体长度变异对男性生育功能的影响

Effect of Y chromosomal length variation on male reproductive dysfunction

目的:探讨单纯Y染色体长度变异即大Y及小Y核型的临床效应,分析其在男性生育障碍诊疗中的临床意义。方法:研究对象分为A组(男性不育组)及B组(配偶既往不良妊娠结局或羊水穿刺示胎儿染色体异常组),比较不同组别间Y染色体长度变异的检出率并分别分析大Y及小Y核型的临床效应。结果:共纳入病例2 139例,共检出98例单纯Y染色体长度变异,包括大Y核型68例及小Y核型30例,两组间Y染色体的长度变异检出率差异无统计学意义(χ2=0.638,P=0.423)。A组中大Y核型的检出率与小Y的检出率相比差异无统计学意义(χ2=2.486,P=0.885),B组中大Y核型的检出率高于小Y的检出率(χ2=13.41,P=0.0002)。大Y的临床效应为男性不育症及自然流产等不良妊娠结局;小Y的临床效应为无精症、少精症以及配偶胚胎停育、自然流产等不良妊娠结局。结论:大小Y核型可能具备某些潜在的尚未被认知的临床效应,与男性不育及不良妊娠结局是否关联,值得重视并需后续研究验证,需继续评估大小Y核型多态性变异对男性生育功能的影响,并在功能基因组学层面进行信号转导及调控机制的研究。

Objective：To investigate the effects of big and bit Y chromosome configurations on male fertility and to evaluate the relevant clinical significance. Methods： The relevant cases were divided into A and B groups. Group A included male infertile cases. Group B included cases whose wives had adverse pregnancy history or the abnormal amniotic fluid punctures. The cytogenetics of the patients were examined by culturing peripheral-blood lymphocytes and G-banding technology, and karyotyping analysis techniques were used to study the big and bit Y chromosomes in the two different groups. Results： Among 2 139 cases, 98 cases were found with abnormal karyotype of big and bit Y chromosomes. There was no significant difference in the abnormal rate of the length variation of the Y chromosomal karyotypes between the male infertility group and the adverse pregnancy outcome group. In the male infertile group （group A）, there was no significant difference in the abnormal rate between the big Y chromosome and the bit Y chromosome. In the group with adverse pregnancy outcomes （group B）, the abnormal rate of the big Y chromosome karyotyping was significantly higher than that of the bit Y chromosome karyotyping. The main clinical effects of groups A and B were azoospermia, oligozoospermia, poor spermia, abortion, embryonic diapause and fetal anomalies, etc . Conclusion： The big and bit Y chromosomal abnormality results in not only the male infertility directly, but also an important and continuous reason of adverse pregnancy outcomes, of which the detailed mechanism needs to be further investigated.