Laboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, South Korea.
Fertil Steril. 2013 Apr;99(5):1369-76. doi: 10.1016/j.fertnstert.2012.12.010. Epub 2013 Jan 8.
To investigate the meiotic segregation patterns of cleavage-stage embryos from robertsonian translocation carriers and aneuploidy of chromosome 18 according to meiotic segregation patterns.
Retrospective study.
Infertility center and laboratory of reproductive biology and infertility.
PATIENT(S): Sixty-two couples with robertsonian translocation carriers.
INTERVENTION(S): One blastomere was biopsied from embryos and diagnosed with the use of fluorescence in situ hybridization (FISH). Translocation chromosomes were analyzed with the use of locus-specific and subtelomeric FISH probes. Aneuploidy of chromosome 18 was assessed simultaneously with translocation chromosomes.
MAIN OUTCOME MEASURE(S): Preimplantation genetic diagnosis (PGD) outcomes, meiotic segregation patterns of robertsonian translocation, and aneuploidy of chromosome 18 depending on meiotic segregation patterns.
RESULT(S): Two hundred seventy embryos of 332 transferrable embryos were transferred in 113 cycles, and 27 healthy babies were born. The alternate segregation was significantly higher in male carriers than in female carriers (43.9% vs. 29.9%, respectively), and adjacent segregation was higher in female carriers than in male carriers (44.7% vs. 38.7%, respectively). Aneuploidy of chromosome 18 was significantly increased in 3:0-segregated or chaotic embryos. Forty-seven alternate embryos were excluded from embryo replacement owing to aneuploidy of chromosome 18.
CONCLUSION(S): In carriers of robertsonian translocation, meiotic segregation showed differences between men and women. Frequent meiotic errors caused by premature predivision or nondisjunction and less stringent checkpoint in women might cause such differences between sexes. Aneuploidy of chromosome 18 might be influenced by meiotic segregation of translocation chromosomes. Factors that cause malsegregation, such as 3:0 or chaotic segregation, seem to play a role in aneuploidy of chromosome 18.
根据减数分裂分离模式研究罗伯逊易位携带者卵裂期胚胎的减数分裂分离模式和 18 号染色体的非整倍性。
回顾性研究。
不孕中心和生殖生物学与不孕实验室。
62 对罗伯逊易位携带者夫妇。
从胚胎中活检一个卵裂球，并使用荧光原位杂交（FISH）进行诊断。使用特异性基因座和亚端粒 FISH 探针分析易位染色体。同时评估 18 号染色体的非整倍性。
植入前遗传学诊断（PGD）结果、罗伯逊易位的减数分裂分离模式以及 18 号染色体的非整倍性取决于减数分裂分离模式。
在 113 个周期中转移了 332 个可转移胚胎中的 270 个胚胎，有 27 个健康婴儿出生。男性携带者的交替分离明显高于女性携带者（分别为 43.9%和 29.9%），女性携带者的相邻分离明显高于男性携带者（分别为 44.7%和 38.7%）。3:0 分离或混乱胚胎中 18 号染色体的非整倍性明显增加。由于 18 号染色体非整倍性，47 个交替胚胎被排除在胚胎替换之外。
在罗伯逊易位携带者中，减数分裂分离在男性和女性之间存在差异。女性中由于过早的预分裂或非分离以及更严格的检查点引起的频繁减数分裂错误可能导致性别之间存在差异。18 号染色体的非整倍性可能受易位染色体的减数分裂分离影响。导致错误分离的因素，如 3:0 或混乱分离，似乎在 18 号染色体非整倍性中起作用。
