【摘要】 目的建立一个高效、稳定的性连锁性遗传病植入前诊断的方法。方法取成人外周血单个淋巴细胞和单卵裂球,采用多重巢式多聚合酶链技术同时扩增性别相关基因Amelogenin基因和IL-3基因。结果男性单个淋巴细胞有效扩增率为92.5%,女性单个淋巴细胞的有效扩增率为91%,准确率100%。单卵裂球的扩增效率为94.1%。结论巢式PCR具有较高的扩增效率和准确性,适于临床植入前诊断的运用推广。更多还原

【Abstract】 Objective To develop a rapid, high efficient, reliable method for preimplantation genetic diagnosis of sex linked genetic diseases. Methods Multiplex nested PCR was used to amplify the sex linked amelogenin and IL-3 genes from human single lymphocytes and single blastomere. Results The amplification efficiencies of multiplex nested PCR of male and female single lymphocytes were 92.5 % and 91 % respectively. The PCR products of the lymphocyte were exactly the same as those of the donor gDNA. The amplification efficiencies of multiplex nested PCR of single blastomere was (94.1%). Conclusion The multiplex nested PCR is conventional and sensitive in single cell and single blastomere, could be applied in preimplantation genetic diagnosis.更多还原