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DETECTION METHOD OF SOMATIC GENETIC ANOMALIES, COMBINATION OF CAPTURE PROBES AND KIT OF DETECTION

机译:体细胞遗传异常的检测方法,捕获问题和检测工具的组合

摘要

This invention relates to a detection method of somatic genetic anomalies potentially present in a tissue sample cancerous, taken from a subject, wherein said detection method comprises the following steps: (a) shearing of the genomic DNA extracted from said tissue sample, to obtain sheared genomic DNA; (b) preparing a library by hybridization capture from the sheared genomic DNA obtained at step (a), by the implementation of at least 43 capture probes having at least 110 nucleotides in length and at least 75% sequence homology with respectively SEQ ID NO:1 to SEQ ID NO:43, said capture probes being able to hybridize on fragments from at least 5 target regions selected from : ALK, BRAF, EGFR, EIF1AY, ERBB2, ERBB4, KDR, KIT, KRAS, MAP2K1, MET, NRAS, PDGFRA, SLC28A1, TP53; (c) sequencing of sheared genomic DNA contained in the library issued at step (b), and (d) analyzing of the sequences of said sheared genomic DNA obtained at step (c), for detecting somatic genetic anomalies in said tissue sample. The present invention also refers to a combination of capture probes and a kit comprising said combination.
机译:本发明涉及一种取自受试者的癌组织样品中潜在存在的体细胞遗传异常的检测方法,其中所述检测方法包括以下步骤:(a)剪切从所述组织样品中提取的基因组DNA,以获得剪切的基因组DNA (b)通过实施至少43个长度分别与序列ID NO:110的核苷酸和至少75%序列同源性的捕获探针,从步骤(a)中获得的剪切的基因组DNA杂交捕获中制备文库: 1至SEQ ID NO:43,所述捕获探针能够与选自以下至少5个靶区域的片段杂交:ALK,BRAF,EGFR,EIF1AY,ERBB2,ERBB4,KDR,KIT,KRAS,MAP2K1,MET,NRAS, PDGFRA,SLC28A1,TP53; (c)对步骤(b)中发布的文库中包含的剪切的基因组DNA进行测序,和(d)分析在步骤(c)中获得的所述剪切的基因组DNA的序列,以检测所述组织样品中的体细胞遗传异常。本发明还涉及捕获探针的组合和包含所述组合的试剂盒。

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