Meiotic segregation analysis of embryos from reciprocal translocation carriers in PGD cycles
Meiotic segregation analysis of embryos from reciprocal translocation carriers in PGD cycles
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DOI：
10.1016/j.rbmo.2011.08.012
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发表时间：
2012-01-01
影响因子：
4
通讯作者：
Jin, Fan
中科院分区：
文献类型：
--
作者：
Ye, Yinghui;Qian, Yuli;Jin, Fan
分析了 34 个相互易位携带者 41 个植入前遗传学诊断周期的 278 个胚胎的减数分裂分离模式，以探讨相互易位的一些特征（包括末端断点、近端着丝粒染色体或携带者性别）是否与减数分裂分离模式相关。有末端断点的易位中正常/平衡核型的发生率显着低于无末端断点的易位（6.5% vs 14.4%，P = 0.005）。具有末端断点的易位与不具有末端断点的易位相比，邻接1（21.0%对29.6%）、邻接2（16.1%对11.1%）和3:1（41.9%对30.6%）分离的发生率没有统计学上的显着差异。与无近端着丝粒染色体的易位相比，有近端着丝粒染色体易位的2:2分离率显着较低（39.2%对60.2%，P = 0.001），而3:1分离率显着较高（43.1%对27.3%，P = 0.005）。男性携带者2:2分离的发生率显着高于女性携带者（58.2% vs 45.0%，P = 0.019）。这项研究表明，涉及末端断点的相互易位导致植入前胚胎正常/平衡核型的比率较低。相互易位的一些特征，如末端断点、近端着丝粒染色体和载体性别，与分离模式有关。 (C) 2011 年，Reproductive Healthcare Ltd. 由 Elsevier Ltd 出版。保留所有权利。
Meiotic segregation patterns of 278 embryos from 41 preimplantation genetic diagnosis cycles of 34 reciprocal translocation carriers were analysed to investigate whether some characteristics of reciprocal translocation, including terminal breakpoints, acrocentric chromosome or carrier gender, are related to meiotic segregation patterns. The incidence of normal/balanced karyotypes in translocations with terminal breakpoints was significantly lower than those without terminal breakpoints (6.5% versus 14.4%, P = 0.005). The incidences of adjacent-1 (21.0% versus 29.6%), adjacent-2 (16.1% versus 11.1%) and 3: 1 (41.9% versus 30.6%) segregation were not statistically significantly different in translocations with terminal breakpoints versus those without. Translocation with acrocentric chromosomes showed a significantly lower rate of 2: 2 segregation (39.2% versus 60.2%, P = 0.001) and a higher rate of 3: 1 segregation (43.1% versus 27.3%, P = 0.005) than those without acrocentric chromosomes. The incidence of 2: 2 segregation was significantly higher in male than in female carriers (58.2% versus 45.0%, P = 0.019). This study suggested that reciprocal translocation involving terminal breakpoints resulted in a lower rate of normal/balanced karyotype in preimplantation embryos. Some characteristics of reciprocal translocation, such as terminal breakpoints, acrocentric chromosome and carrier gender, are related to the segregation patterns. (C) 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.