【作者】 周倩；

【导师】 王秀霞；

【作者基本信息】 中国医科大学 ， 妇产科学（专业学位）， 2020， 硕士

【摘要】 目的:研究染色体平衡易位及易位特征对控制性促排卵(COS)治疗效果的影响。研究方法:纳入于我院行植入前遗传学诊断(PGD)的286个COS周期,根据性别分为2组,A组:仅女方为平衡易位携带者(138个周期),B组:仅男方为平衡易位携带者(148个周期),再将A组根据不同易位模式分为2个亚组,A1组为相互易位,A2组为罗氏易位。比较各组间COS中促排卵情况与胚胎发育情况。研究结果:A组的取卵数、正常信号囊胚数较B组有降低的趋势,但无显著性差异(P>0.05);单独就女方染色体相互易位与罗氏易位进行组内比较,A1组的2PN卵裂数、正常信号囊胚数均显著低于A2组(P<0.05),差异具有统计学意义。进一步分析女方染色体罗氏易位的交换片段及其断裂位点,发现染色体13号和14号易位的频率最高,且q10区域为断裂位点的高发区域,此类易位形成的2PN卵裂数及正常信号囊胚数较其他染色体易位模式高(P<0.05)。研究结论:(1)女方染色体平衡易位不影响促排卵中卵巢反应性;(2)女方染色体相互易位较罗氏易位形成不平衡的胚胎可能性高;(3)女性染色体罗氏易位中,不同染色体片段及其断裂位点对胚胎发育的影响不同。更多还原

【Abstract】 Objective: To study the effect of balanced chromosomal translocation and translocation characteristics on the therapeutic effect in controlled ovarian stimulation(COS).Methods: 286 COS cycles of preimplantaion genetic diagnosis(PGD)in our hospital were divided into two groups according to gender.Group A: only the female was the balanced translocation carrier(138cycles),B: only the male was the balanced translocation carrier(148cycles).Then the group A was divided into two subgroups according to different translocation patterns,group A1 was reciprocal translocation and group A2 was Robertson translocation.The ovulation induction and embryo development in COS were compared among groups.Results: The number of retrieved oocytes and the number of normal signal blastocysts in group A were lower than that in group B,but there was no significant difference(P>0.05).The number of 2PN cleavage and the number of normal signal blastocysts in group A1 were significantly lower than that in group A2 in terms of reciprocal translocation and Robertson translocation among female chromosome(P<0.05).Further analysis of the exchange fragments and breakage sites of Robertson translocation of female chromosome showed that the frequency of translocation between chromosome13 and chromosome 14 was the highest,and the q10 region was the region with high occurrence of breakpoint sites.The number of 2PN cleavage and the number of normal signal blastocysts formed by such translocation were higher than other chromosomal translocation(P<0.05).Conclusion:(1)The balanced chromosomal translocation of female does not affect the ovarian response in controlled ovarian stimulation.(2)The possibility of unbalanced embryo formed by reciprocal translocation of female chromosome is higher than that of Robertson translocation.(3)In female chromosome Robertson translocation,different chromosome fragments and their breakage sites have different effects on embryo development.更多还原