Identification of biparental and diploid blastocysts from monopronuclear zygotes with the use of a single-nucleotide polymorphism array
Identification of biparental and diploid blastocysts from monopronuclear zygotes with the use of a single-nucleotide polymorphism array
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DOI：
10.1016/j.fertnstert.2018.04.034
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发表时间：
2018-08-01
影响因子：
6.7
通讯作者：
Lin, Ge
中科院分区：
文献类型：
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作者：
Xie, Ping-Yuan;Tang, Yi;Lin, Ge
目的：选择正常受精的二倍体胚泡移植到只有多核（1 PN）胚胎的患者中。设计：实验研究。设置：大学附属中心。患者：接受卵胞浆内单精子注射治疗并有1 PN胚泡的夫妇。干预：在初步测试中，利用低密度单核苷酸多态性（SNP）分析了孤雌生殖人胚胎干细胞（phESCs）和正常受精囊胚的有限细胞，阵列，以确定分布模式和杂合率。在临床应用中，利用SNP阵列分析了1 PN囊胚。仅移植诊断为正常的囊胚。主要观察指标：孤雌生殖和正常受精囊胚的SNP分布模式和杂合率结果：在预试验中，phESCs与正常受精囊胚相比，在SNP分析中表现出明显的分布模式和较低的杂合率。特别是，纯合hESC表现出泛纯合性分布模式，杂交phESC表现出部分纯合性分布模式，正常受精囊胚表现出泛杂合性分布模式，平均杂合率为20.21%; 13.6%被认为是预测正常受精样本的最小截止值。在临床应用中，分析了24个1 PN囊胚，10/24个染色体异常，3/24个全纯合，0。45%，杂合率为0.8%，部分纯合率为6.54%。结论：低密度SNP芯片可作为一种经济有效的方法，用于鉴定双亲来源和二倍体1 PN囊胚的移植。(C)2018年，美国生殖医学会（American Society for Reproductive Medicine）
Objective: To select normal fertilized diploid blastocysts in patients who had only monopronucleated (1PN) embryos for transfer.Design: Experimental study.Setting: University-affiliated center.Patient(s): Couples who were undergoing intracytoplasmic sperm injection treatment and had 1PN blastocysts.Intervention(s): In a preliminary test, limited cells of parthenogenetic human embryonic stem cells (phESCs) and normal fertilized blastocysts were analyzed with the use of a low-density single-nucleotide polymorphism (SNP) array to identify the distribution pattern and rate of heterozygosity. In the clinical application, 1PN blastocysts were analyzed with the use of the SNP array. Only diagnosed normal blastocysts were transferred. The diagnosed uniparental blastocysts were validated by imprinted gene expression.Main Outcome Measure(s): Distribution pattern and rate of heterozygosity between parthenogenesis and normal fertilization.Result(s): In t he pretest, phESCs exhibited distinct distribution pattern and lower rate of heterozygosity, compared with normal fertilized blastocysts after SNP analysis. In particular, homozygous hESCs showed a panhomozygosity distribution pattern, hybrid phESCs showed a partial homozygosity distribution pattern, and normal fertilized blastocysts exhibited a panheterozygosity distribution pattern with an average of 20.21% heterozygosity rate; 13.6% was found to be the minimum cutoff to predict normal fertilized samples. In the clinical application, 24 1PN blastocysts were analyzed; 10/24 showed chromosomal abnormalities, 3/24 showed panhomozygosity with 0. 45% 0.8% heterozygosity, and 1/24 showed partial homozygosity with 6.54% heterozygosity. The remaining 10 blastocysts, with a panheterozygosity distribution pattern and higher genomic heterozygosity rate, were diagnosed as normal-fertilization diploid embryos: three were transferred and resulted in two healthy newborns.Conclusion(s): The low-density SNP array might serve as a cost-effective method to identify biparental origin and diploid 1PN blastocysts for transfer. (C) 2018 by American Society for Reproductive Medicine.