Hybridization probe for detecting von hippel-lindau (VHL) gene large deletion and detection method and kit

Abstract

The invention discloses a hybridization probe for detecting von hippel-lindau (VHL) gene large deletion and a detection method and a kit, which relate to the field of gene detection, wherein the hybridization probe is marked with fluorescence signals, and is prepared from probe primers with nucleotide sequences which is showed in sequence identifier number 1-6 (SEQ ID NO.1-6). The detection method comprises steps: cell smears are prepared from collected samples to be detected, hybridization probe is arranged in a hybridization solution to have a hybridization reaction with cell and obtain hybridization products, the hybridization products are washed, dyeing of cell nucleus are processed to obtain cell smears after nuclear staining, the cell smears after nuclear staining are observed through a fluorescence microscope, thereby judging whether deoxyribose nucleic acids (DNA) of the samples to be detected happen VHL gene large deletion. The kit comprises the hybridization probe. The hybridization probe is strong in specificity, high in sensitivity, simple in detection method and low in cost of the kit, and can rapidly and accurately detect VHL gene large deletion.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a hybridization probe, a detection method and a kit for detecting large fragment deletion of VHL gene. Background technique [0002] The VHL gene (MIM No. 608537) is located at 3p25-26, with a full length of 10KD, including three exons and two introns, and can be transcribed to form two mRNAs. The mRNA containing three exon transcripts translates the p30 (213 amino acids) and p19 (159 amino acids) proteins. p19 is an isoform formed by the transcription of the second transcription initiation site (codon 54) of VHL gene, and has similar functions to p30. [0003] There are various ways of VHL gene mutation, including point mutation, large fragment deletion, small fragment deletion or insertion, splicing site mutation and so on. At present, the most commonly used method for detecting VHL gene mutations is direct PCR sequencing, and the diagnosis rate is 38% to 80%. Large fragments a...

AI Technical Summary

Problems solved by technology

SoμthernBlot and MLPA have the defects that the detection method is cumbersome and expensive, and is not suitable for clinical application

Although RT-PCR and MPQFM-PCR are simple to operate, their diagnostic efficiency is limited

Fluorescence in situ hybridization has the characteristics of high diagnostic efficiency and suitable for clinical promotion in diagnosing large fragment deletions of genes. Therefore, we can use fluorescence in situ hybridization to diagnose large fragment deletions of VHL genes and solve the existing large fragment deletions of VHL genes. The problem of limited detection efficiency and difficult promotion

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