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植入前遗传学诊断周期中染色体易位对胚胎发育的影响[J]. 中山大学学报(医学科学版), 2013,34(6).
Effect of Chromosomal Translocations on Embryo Development in PGD Cycles[J]. Journal of Sun Yat-sen University (Medical Sciences), 2013, 34(6).
【目的】 探讨植入前遗传学诊断(PGD)周期中染色体相互易位、罗氏易位对种植前胚胎发育的影响及可能机制。【方法】 回顾性分析了2010年6月至2012年12月期间中山大学附属第一医院生殖中心进行的31个罗伯逊(罗氏)易位周期及48个相互易位周期中染色体正常/平衡胚胎和异常胚胎的发育情况,选择α-地中海贫血周期作为对照。同时比较了性别和近端着丝粒染色体对正常/平衡胚胎率和胚胎发育的影响。【结果】 取卵后第3天(D3)正常/平衡胚胎与异常胚胎的优质胚胎率无统计学差异,罗氏易位组分别为79.5% 和 71.1% ,相互易位组为77.3% 和72.0%;而正常/平衡胚胎的D5/6囊胚形成率显著高于异常胚胎,罗氏易位组分别为76.9% 和53.5%,相互易位组为75.0%和55.6%,差异有统计学意义(P < 0.0001)。将染色体易位组按性别或将相互易位组按包含近端着丝粒染色体分亚组,比较各亚组的正常/平衡胚胎率,未发现显著差异;D3优质胚胎率和D5/6囊胚形成率在相互易位的两个亚组也未发现显著差异(P > 0.05)。【结论】 染色体易位对早期胚胎发育影响不大,对染色体不平衡胚胎的清除可能在囊胚阶段已经开始;性别和相互易位中染色体的类型对正常/平衡胚胎率影响不大,亦不是影响胚胎发育的重要因素。
【Objective】 To investigate the effect of chromosomal translocations on the embryo development and the possible mechanism. 【Methods】 31 Robertsonian and 48 Reciprocal PGD cycles conducted in the First Affiliated Hospital of Sun Yat-sen University during June 2010 to December 2012 were included. Embryos’ development in normal/balanced group and abnormal group were retrospectively analyzed, compared with ?琢-thalassemia PGD cycles. Embryos’ development in different gender and translocation group were also measured. 【Result】 No significant difference was found between normal/balanced and unbalanced embryo group in terms of D3 high-quality embryo percentage,79.5% vs 71.1% in Rob and 77.3% vs 72.0% in REC, respectively. The percentage of blastocyst at D5-D6 was significantly higher in the normal/balanced group, 76.9% vs 53.5% in Rob and 75.0% vs 55.6% in REC (P < 0.0001). No significance was found about the embryo development in different subgroups divided by gender and acrocentric chromosome.【Conclusion】 Unbalanced chromosome has little effects on early embryos’s development. A self-elimination mechanism may exist during the blastulation stage. Geuder and acrocentric chromosome may have little effects on the rates of normal/balanced embryos and their development.
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