人类早期体外发育停滞胚胎的微阵列比较基因组技术全基因组分析  

Array comparative genomic hybridization analysis of early-stage arrested human embryos

作　　者：岳超敏[1] 方丛[1] 李俐琳[1] 汪翔[1] 张敏芳[1] 

机构地区：[1]中山大学附属第六医院生殖中心,广州510610

出　　处：《中华医学遗传学杂志》2014年第3期302-306,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81070495）;广东省自然科学基金（S2013010013404）

摘　　要：目的了解人类早期体外发育停滞胚胎染色体整倍体性，探索早期胚胎发育停滞与染色体非整倍体的关系，为胚胎发育停滞机制的下一步研究提供方向。方法选择行胞浆内单精子注射受精的胚胎13枚：四细胞期停滞胚胎5枚，八细胞期停滞胚胎4枚，囊胚4枚，分别进行活检、全基因组扩增、微阵列比较基因组杂交技术基因芯片分析。结果5枚四细胞期停滞胚胎有2枚染色体整倍体性正常。4枚八细胞期停滞胚胎均为非整倍体。4枚囊胚中仅1枚形态较差的囊胚染色体存在微缺失，另3枚形态学评分分别为好、中、差的囊胚均为整倍体。另外对卵裂期停滞的4枚胚胎取不同活检细胞分别观察，除1例扩增失败、1例均为整倍体外，剩余2枚胚胎不同卵裂球染色体整倍体性不一致，即存在嵌合现象。结论卵裂期停滞胚胎及形态学差的囊胚染色体整倍体性可为正常，早期胚胎嵌合普遍，提示胚胎发育停滞的机制可能不仅是由染色体非整倍体导致的；具体机制尚待进一步研究。Objective To investigate chromosomal euploidies in early-stage arrested human embryos. Methods To determine the euploidy status of the 24 chromosomes, 13 embryos were analyzed, which included 5 arrested at 4-cell stage, 4 arrested at 8-cell stage, and 4 embryos at blastocyst stage regardless of their morphological scores. All embryos were subjected to biopsy, whole genome amplification, and array comparative genome hybridization analysis. Results Chromosome euploidies of the arrested embryos can be normal, aberrant and chaotic. Mosaicism is prevalent in early stage cleavage, whilst most of the blastocysts, even with poor morphology, are normal diploid. Conclusion Arrested embryo may have normal chromosomes euploidy. Mosaicism is common in cleavage stage embryos. Early stage embryo arrest may not be solely attributable to chromosomal aneuploidies and needs further research.

关 键 词：微阵列比较基因组杂交技术 植入前遗传学筛查 整倍体性 嵌合 停滞胚胎 

分 类 号：R714.8[医药卫生—妇产科学]