Kit for detecting neurofibromatosis 1 (NF1)-related gene mutation

A neurofibromatosis and kit technology, applied in the field of molecular biology, can solve the problems of low sensitivity and specificity, demanding detection time, unbearable cost, etc., to avoid uncertain primers, improve detection accuracy and stability effect of increasing clinical detection rate and accuracy

Inactive Publication Date: 2015-03-25
百世诺(北京)医疗科技有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0012] 1. There are many types of inspections;
[0013] 2. Low sensitivity and specificity;
[0014] 3. Susceptible to factors such as drugs and mental conditions;
[0015]

Method used

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  • Kit for detecting neurofibromatosis 1 (NF1)-related gene mutation
  • Kit for detecting neurofibromatosis 1 (NF1)-related gene mutation
  • Kit for detecting neurofibromatosis 1 (NF1)-related gene mutation

Examples

Experimental program
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Effect test

Embodiment 1

[0049] 1. Probe design:

[0050] Synthesize streptomycin-labeled probes according to the table. The probe solution uses the SureSelect buffer system of agilent company.

[0051]2. Genome extraction:

[0052] Qiagen FlexiGene DNA Kit (Code No: 51204) was used to extract the genomes of 96 samples to be tested, OD 260 / 280 When the value reaches 1.8-2.0, take 1-3 μg each as the starting template.

[0053] 3. Sample preparation before sequencing

[0054] 1. Target gene fragmentation:

[0055] Take the quantified 270 copies of genomic DNA and dilute to 20-35ng / μL. Take 130 μL and fragment them separately with a sonicator.

[0056] 2. AMpure XP fragment selection

[0057] 1. Take a 96-well plate, add 80-100 μL magnetic beads, then add sample DNA, pipette repeatedly to mix;

[0058] 2. Place the mixture at 26°C for 5 minutes;

[0059] 3. Put the 96-well plate on the magnetic plate for 3 minutes;

[0060] 4. Carefully pipette all the supernatant into a new well, be careful no...

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Abstract

The invention relates to a sample preparation kit for detecting neurofibromatosis 1 (NF1)-related gene mutation, and in particular relates to a product for detecting NF1-related gene by the massively parallel sequencing platform technology. The kit is that A, a capture probe is specially designed and prepared for all exon fragments of NF1 gene; B, an unique linker with a tag sequence is designed; C, RCP (Polymerase Chain Reaction) amplification is performed for the probe sequence through a primer; and D, the operation of capturing a targeted fragment after mixing is specially designed. A massively parallel sequencing platform prepared through the method and the kit is high in sample throughput, high in efficiency, and simple and convenient to operate, and the sequencing inspection cost is greatly decreased.

Description

technical field [0001] The invention belongs to the field of molecular biology, relates to medical diagnosis and biotechnology, relates to an in vitro diagnostic kit for detecting neurofibromatosis-related gene mutations, and is a neurofibromatosis-related gene mutation applied to a new generation sequencing platform technology. Kit for gene mutation. technical background [0002] Neurofibromatosis 1 (NF1) is caused by mutations in the tumor suppressor gene NF1, and is characterized by multiple café-au-lait spots, axillary or inguinal spots, multiple dermatofibromas, and iris Lisch nodules. It is a rare and serious clinical manifestation Also included are neurofibromas tufted, optic nerve or other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vascular lesions. [0003] 2. Inheritance pattern and epidemiology [0004] NF1 is autosomal dominant, with high penetrance, and almost all patients show clinical symptoms a...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6869
Inventor 刘哲
Owner 百世诺(北京)医疗科技有限公司
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