APHP, Service d'Histologie Embryologie Cytogénétique, Hôpital Antoine Béclère, Clamart, F-92140, France.
Reprod Biomed Online. 2009;19 Suppl 4:4199.
Novel embryonic stem cell lines derived from embryos carrying structural chromosomal abnormalities obtained after preimplantation genetic diagnosis (PGD) are of interest to study in terms of the influence of abnormalities on further development. A total of 22 unbalanced blastocysts obtained after PGD were analysed for structural chromosomal defects. Morphological description and chromosomal status of these blastocysts was established and they were used to derive human embryonic stem cell (ESC) lines. An outgrowth of cells was observed for six blastocysts (6/22; 27%). For two blastocysts, the exact morphology was unknown since they were at early stage, and for four blastocysts, the inner cell mass was clearly visible. Fifteen blastocysts carried an unbalanced chromosomal defect linked to a reciprocal translocation, resulting in a positive outgrowth of cells for five blastocysts. One human ESC line was obtained from a blastocyst carrying a partial chromosome-21 monosomy and a partial chromosome-1 trisomy. Six blastocysts carried an unbalanced chromosomal defect linked to a Robertsonian translocation, and one showed a positive outgrowth of cells. One blastocyst carried an unbalanced chromosomal defect linked to an insertion and no outgrowth was observed. The efficiency of deriving human ESC lines with constitutional chromosomal disorders was low and probably depends on the initial morphological aspect of the blastocysts and/or the type of the chromosomal disorders.
从植入前遗传学诊断 (PGD) 后获得的携带结构染色体异常的胚胎中衍生的新型胚胎干细胞系在研究异常对进一步发育的影响方面具有重要意义。对 22 个经 PGD 获得的非平衡胚泡进行了结构染色体缺陷分析。对这些胚泡的形态描述和染色体状态进行了建立，并将其用于衍生人类胚胎干细胞 (ESC) 系。六个胚泡（6/22；27%）观察到细胞外生。由于两个胚泡处于早期阶段，因此确切的形态未知，对于四个胚泡，内细胞团清晰可见。15 个胚泡携带与相互易位相关的不平衡染色体缺陷，导致五个胚泡的细胞外生呈阳性。从携带部分 21 号染色体单体和部分 1 号染色体三体的胚泡中获得了一条人类 ESC 系。六个胚泡携带与罗伯逊易位相关的不平衡染色体缺陷，一个显示细胞外生阳性。一个胚泡携带与插入相关的不平衡染色体缺陷，未观察到细胞外生。衍生具有正常染色体异常的人类 ESC 系的效率较低，这可能取决于胚泡的初始形态和/或染色体异常的类型。
