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METHOD FOR SIMULTANEOUSLY COMPLETING GENE LOCUS, CHROMOSOME AND LINKAGE ANALYSIS

机译:同时完成基因座,染色体和连锁分析的方法

摘要

A method for simultaneously completing gene locus, chromosome and linkage analysis. The method comprises the following steps: acquire an embryonic cell sample, whole genome amplification, target gene mutation locus amplification, library building of a whole genome amplification product and a target gene mutation locus, high-throughput sequencing, and data analysis; and by utilizing a whole genome amplification technology and combining the high-throughput sequencing, a plurality of comprehensive detection items is completed in one step. The method provides a favorable condition for a trace sample, not only can be used for PGD detection to determine whether embryos carry virulence genes or not and an abnormal chromosome copy number situation, but also is suitable for genetic screening of the embryos of older women suffering from recurrent abortion, one-step completion of multiple detection of a single sample is realized, the operation is simple, the period is short, and the feasibility is strong.
机译:同时完成基因座,染色体和连锁分析的方法。该方法包括以下步骤:获取胚胎细胞样品,全基因组扩增,靶基因突变基因座扩增,全基因组扩增产物和靶基因突变基因座的文库构建,高通量测序和数据分析。利用全基因组扩增技术,并结合高通量测序,一步完成多个综合检测项目。该方法为痕量样品提供了良好的条件,不仅可以用于PGD检测以确定胚胎是否携带有致病基因以及染色体拷贝数情况异常,而且还适合于遗传筛查患有老年女性的胚胎。从反复流产可以实现一步一步完成单个样品的多次检测,操作简单,周期短,可行性强。

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