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性连锁性遗传病植入前诊断的临床前运用研究
引用本文:钱卫平,李崎,田箐燕,宋丹,郑理光,林坚,邹红艳,张敏. 性连锁性遗传病植入前诊断的临床前运用研究[J]. 实用预防医学, 2005, 12(5): 1046-1048
作者姓名:钱卫平  李崎  田箐燕  宋丹  郑理光  林坚  邹红艳  张敏
作者单位:深圳罗湖医院不孕不育&遗传诊疗中心,广东,深圳,518001
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。

关 键 词:多聚合酶链 单细胞 植入前诊断
文章编号:1006-3110(2005)05-1046-03
收稿时间:2005-06-11
修稿时间:2005-06-11

Preclinical Study of Preimplantation Genetic Diagnosis for Sex Linked Genetic Diseases
QIAN Wei - ping, LI Qi, TIAN Jing-yan,et al.. Preclinical Study of Preimplantation Genetic Diagnosis for Sex Linked Genetic Diseases[J]. Practical Preventive Medicine, 2005, 12(5): 1046-1048
Authors:QIAN Wei - ping   LI Qi   TIAN Jing-yan  et al.
Affiliation:QIAN Wei - ping, LI Qi, TIAN Jing-yan, et al.
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 POR 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 POR 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.
Keywords:Polymerase chain reaction   Single cell   Preimplantation genetic diagnosis
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