基于Array-CGH技术的胚胎植入前遗传学诊断在XYY综合征患者中的应用

发布时间：2018-03-20 13:34

本文选题：XYY　切入点：胚胎非整倍体　出处：《安徽医科大学学报》2017年08期 　论文类型：期刊论文

【摘要】：目的评估基于Array-CGH技术的植入前遗传学诊断(PGD)对超雄综合征(XYY综合征)患者胚胎染色体进行分析的应用效果。方法研究选取行PGD助孕的5例XYY患者及15例染色体易位患者,对两组的女方年龄、精子浓度、前向运动精子比例、获卵数、第二次减数分裂中期(MII)卵子数、优质胚胎数、染色体异常率进行比较。结果 XYY组和染色体易位组在女方年龄、精子浓度、PR、获卵数、MII卵子数、优质胚胎数均差异无统计学意义,PGD检测结果中,两组的染色体异常率差异无统计学意义。XYY组活检21枚胚胎,其中10枚胚胎为常染色体异常,1枚为性染色体异常。非整倍体率为52.38%,常染色体异常为47.62%,性染色异常为4.80%。结论 XYY综合征患者行体外受精时有和男性染色体易位患者类似的胚胎染色体异常率,Array-CGH可同时检测XYY综合征患者全部染色体情况,避免大量异常胚胎植入女方体内,有利于降低子代出生缺陷,值得临床应用。
[Abstract]:Objective to evaluate the effect of preimplantation genetic diagnosis (PGD) based on Array-CGH technique on chromosome analysis of embryos in patients with hyperandrogenic syndrome (XYY syndrome). Methods five patients with PGD assisted pregnancy and 15 patients with chromosome translocation were studied. The age, sperm concentration, forward motility sperm ratio, the number of eggs obtained, the number of meiotic eggs, the number of high quality embryos, and the rate of chromosomal abnormality were compared between the two groups. Results the age of women was found in XYY group and chromosome translocation group. There was no significant difference in the number of MII eggs and the number of high quality embryos. There was no significant difference in chromosomal abnormality rate between the two groups, and there was no significant difference in chromosomal abnormality rate between the two groups. In XYY group, 21 embryos were biopsied. The aneuploidy rate was 52.38, the autosomal abnormality was 47.62, and the sex staining abnormality was 4.80. Conclusion there are chromosomal translocation in patients with XYY syndrome during in vitro fertilization. Array-CGH can simultaneously detect all chromosomes in patients with XYY syndrome. Avoiding a large number of abnormal embryos implanted into the female is helpful to reduce the birth defects of the offspring and is worthy of clinical application.
【作者单位】：安徽医科大学第一附属医院生殖中心;
【基金】：安徽省科技攻关计划项目(编号:1604a0802077) 安徽高校省级自然科学研究项目(编号:KJ2014A114)
【分类号】：R714.8

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