摘要目的检测韦-伯综合征(Beckwith-Wiedemann syndrome,BWS)相关印记基因在人类卵母细胞和植入前胚胎的正常表达,探讨辅助生殖技术(assisted reproductive technology,ART)和BWS的关系.方法应用嵌套式逆转录-聚合酶链反应技术检测印记基因 P57KIP2、LIT1、TSSC3在人类卵母细胞及植入前胚胎的正常表达.结果卵母细胞和各期植入前胚胎、囊胚泡中均存在P57KIP2表达. LIT1自8细胞胚胎开始表达,持续至囊胚泡期. TSSC3于卵母细胞及各期植入前胚胎中均未表达.结论 BWS相关印迹基因 LIT1、P57KIP2表达于植入前胚胎,ART技术的体外干预可能影响其印迹基因的正常表达.

abstractsObjective To investigate the expression of imprinted genes related to Beckwith-Wiedemann syndrome(BWS)in human oocytes and preimplantation embryos for understanding the relationship between assisted reproductive technology (ART) and BWS. Methods Using nested reverse transcription-PCR to analyze the expression of P57KIP2,LIT1,TSSC3 in human oocytes and preimplantation embryos. Results Transcripts of P57KIP2 were detected in human oocytes and at all stages of preimplantation embryos. LIT1 was expressed only in stages of 8-cell and blastocyst. Transcripts of TSSC3 could not be detected in human oocytes and preimplantation embryos. Conclusion Transcripts of P57KIP2 and LIT1, imprinted genes related to BWS, were detected in human preimplantation development;ART might affect the epigenetics of imprinted genes in early embryogenesis.