Link site detection method of gene deletion fragment based on MLPA-NGS technology

Abstract

The invention provides a probe composition for detecting a connection site of a VHL gene deletion fragment based on an MLPA-NGS technology, each probe pair in the probe composition comprises left side probe sequences with odd numbers and right side probe sequences with even numbers, and the sequences of all the left side probe sequences and the right side probe sequences are shown as SEQ ID NO.1-SEQ ID NO.60. The invention further provides a kit for detecting the connection site of the VHL gene deletion fragment based on the MLPA-NGS technology. Moreover, the invention also provides an iterative probe for detecting a connection site of a VHL gene deletion fragment, the method can realize accurate breakpoint positioning, and CNVs for successfully identifying the VHL gene of a to-be-detected patient can be successfully identified by combining MLPA-NGS with Sanger sequencing, so that the limitation of medical exon group sequencing and gene chip analysis is overcome, and the detection accuracy is improved. Compared with qPCR and gene chip methods, the method provided by the invention has higher accuracy.

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