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目的探讨inv(9)(p11q13)在不孕不育人群的发生率及在辅助生殖治疗(ART)中的遗传效应。方法 2002年9月至2013年12月在本生殖中心就诊的34157例不孕不育患者进行了染色体核型分析,689例为9号染色体臂间倒位携带者;其中对2008年1月至20013年12月期间286例inv(9)(p11q13)患者的300个ART新鲜周期进行胚胎学与妊娠结局的研究。结果9号染色体臂间倒位携带者在不孕不育人群中的发生率为2.02%;研究组的受精率、卵裂率、优质胚胎率、种植率、妊娠率、流产率、胎儿畸形率等各项指标与对照组均无显著性差异(P>0.05)。结论 inv(9)(p11q13)在人群中的发生频率较高,但在ART领域里其遗传效应与染色体正常组相比未见显著性差异,认为inv(9)(p11q13)是一种多态性改变,一般不具有病理学意义。
Objective To investigate the incidence of inv (9) (p11q13) in infertile population and its genetic effect in assisted reproductive therapy (ART). Methods Chromosomal karyotype analysis was performed on 34,157 cases of infertility patients treated in our reproductive center from September 2002 to December 2013, and 689 cases were carriers of inter-arm inversion in chromosome 9. Among them, The 300 ART fresh cycles of 286 inv (9) (p11q13) patients during December 20013 were studied for embryology and pregnancy outcomes. Results The incidence of inbreeding on chromosome 9 was 2.02% in infertile population. The fertilization rate, cleavage rate, high-quality embryo rate, implantation rate, pregnancy rate, abortion rate and fetal malformation rate And other indicators and the control group no significant difference (P> 0.05). Conclusion Inv (9) (p11q13) has a high frequency of occurrence in the population, but there is no significant difference in the genetic effect between the inv (9) (p11q13) and normal chromosomes in the field of ART. It is considered that inv (9) Sexual changes do not generally have pathological significance.