方法收集临床资料及周围血提取基因组DNA,采用多重连接依赖的探针扩增(multiplex ligation-dependent probe amplification,MLPA)方法应用P022试剂盒进行PLP1基因重复突变检测;DNA直接测序方法进行PLP1突变检测,确定基因...
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多重连接探针扩增技术 MLPA ; multiplex ligation-dependent probe amplification
多重连接探针扩增 MLPA ; multiplex ligation-dependent probe amplification
探针扩增法 MLPA
多重连接探针扩增法 MLPA
的探针扩增 multiplex ligation-dependent probe amplification ; MLPA
探针扩增技术 multiplex ligation-dependent probe amplification ; MLPA
连接探针扩增 multiplex ligation-dependent probe amplification ; MLPA
依赖的探针扩增技术 multiplex ligation-dependent probe amplification ; MLPA
采用多重连接探针扩增 multiplex ligation-dependent probe amplification ; MLPA
使用多重连接依赖式探针扩增（MLPA），我们在三个家族中检测两个大的基因组重排，检测21和22外显子和整条BRCA1基因上的一个罕见缺失。
Using MLPA analysis, we detected two large genomic rearrangements in three families, a deletion of exons 21 and 22, and a rare deletion of a whole BRCA1 gene.
结论：利用PCR扩增产物制备基因芯片探针是一种快速、简便、实用的方法。
Conclusions: Using PCR amplification products to prepare gene chip probe was a quickly, simple effective method.
本发明进一步提供用作分子探针或聚合酶链式反应(PCR)扩增引物的核酸分子，即合成的或天然的寡聚核苷酸。
The present invention further provides nucleic acid molecules for use as molecular probes, or as primers for polymerase chain reaction (PCR) amplification, i. e. synthetic or natural oligonucleotides.
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