人类植入前胚胎单卵裂球性别鉴定的双色荧光原位杂交技术

Sex determination of human preimplantation embryo blastomere using dualcolor fluorescence in situ hybridization

目的为开展植入前遗传学诊断的临床应用，建立一套实用的植入前胚胎性别鉴定的技术。方法运用显微操作建立人类胚胎（３～１０细胞阶段）显微活检技术和制备单个细胞间期核标本技术，并运用双色荧光原位杂交技术对人胚单卵裂球进行性别鉴定。结果初步建立了人类胚胎（３～１０细胞阶段）显微活检技术和单个细胞间期核标本制备技术，并对人类早期胚胎单卵裂球进行了性别鉴定。结论本套技术具有快速诊断（６小时）、仅需微量标本（１个细胞）及不需细胞培养等特点，性别鉴定准确度高（１００％）。

Objective To establish a series of techniques of sex determination of human preimplantation embryo in order that preimplantation genetic diagnosis(PGD) can be used clinically. Methods Use micromanipulation for biopsy of human preimplantation embryo(310 cell) and prepare singlecell interphase nuclei sample. Make sex determination of human preimplantation embryos by using dualcolor fluorescence in situ hybridization. Results The technique of human preimplantation embryo (310 cell) biopsy was established preliminarily and the technique of preparing singlecell interphase nuclei sample was set up and stablized. The sex determination of the blastomere of human preimplantation embryo was successful. Conclusion This series of techniques can make fast diagnosis (less than 6 hours) with minimal sample(only one cell), with no cell culture, and with high accuracy of sex determination(100%). Sex determination of preimplantation embryoDualcolor fluorescence in situ