Probe composition, reagent, kit and detection method for detecting mucopolysaccharide storage disease type VII

A technology for the storage and composition of mucopolysaccharides, which is applied in biochemical equipment and methods, recombinant DNA technology, and the determination/testing of microorganisms, to achieve the effects of reducing birth rate, improving diagnostic accuracy, and improving detection timeliness

Pending Publication Date: 2022-06-10
江苏源隆医疗科技有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0008] In view of the shortcomings of the prior art described above, the object of the present invention is to provide a probe composition for detecting mucopolysaccharidosis type VII, for To solve the problem that the conventional diagnostic method for mucopolysaccharidosis type VII in the prior art cannot carry out the screening and prenatal diagnosis of GUSB gene mutation pre-pregnancy carriers, and at the same time, the present invention will also provide a method for detecting mucopolysaccharidosis. Type VII reagent and a test kit for detecting mucopolysaccharidosis type VII; in addition, the present invention will also provide a method for detecting related genes of mucopolysaccharidosis type VII

Method used

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  • Probe composition, reagent, kit and detection method for detecting mucopolysaccharide storage disease type VII
  • Probe composition, reagent, kit and detection method for detecting mucopolysaccharide storage disease type VII
  • Probe composition, reagent, kit and detection method for detecting mucopolysaccharide storage disease type VII

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Experimental program
Comparison scheme
Effect test

Embodiment 1

[0107] The specific method of using the above kit:

[0108] 1. DNA amplification

[0109] Configure Denaturation Master Mix according to the following system: (All reagents are independently developed and prepared from purchased raw materials, and are currently applying for a first-class registration certificate, tentatively named CNVPLUS TM Supporting detection reagents for chip scanners)

[0110] Form 2

[0111] Element 1× Denaturing solution (Denat Soln 10X) 2μl water 18μl

[0112] Configure the amplification master mix (Amplification Master Mix) according to the following system: Vortex to mix the components of the amplification master mix, then spin the tube twice, and vortex again to get the amplification master mix.

[0113] Form 3

[0114]

[0115] S1. Take 20 μl of DNA sample (5 ng / μL), add 20 μl of the above-mentioned denaturing mixture, and incubate at room temperature for 10 minutes.

[0116] S2. Add 130 μl neutral solution (Neu...

Embodiment 2

[0175] The above chips were used to verify GUSB positive sites

[0176] Step 1. Sample collection: after informed consent, peripheral blood was collected from 12 patients, including 7 male patients and 5 female patients, as verification samples.

[0177] Step 2. Sample preparation: DNA extraction is performed on the above verification samples, and quality control (such as S14 quality detection) is performed by gel electrophoresis, Nanodrop spectrophotometer, etc., to ensure that each DNA sample has no degradation, no impurities, and high purity . Optical Density (OD) 260 / 280nm ratio ranges from 1.8 to 2.0, and OD 260 / 230nm ratio ranges from 1.5 to 2.0. Samples that do not meet any of the conditions need to be purified.

[0178] Step 3. Detection reaction: The samples that pass the quality inspection are first subjected to whole-genome amplification, and the amplified products are then subjected to enzyme digestion, precipitation recovery, and resuspension to obtain DNA fragme...

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Abstract

The invention relates to the field of genetic disease gene detection, in particular to a probe composition for detecting mucopolysaccharide storage disease type VII, and the probe composition aims at a mucopolysaccharide storage disease type VII related gene targeting sequence selected from a plurality of sites on a GUSB gene. The invention solves the problem that the conventional mucopolysaccharide storage disease VII type diagnosis method in the prior art cannot perform GUSB gene mutation pre-pregnancy carrier screening and prenatal diagnosis. The kit can detect all GUSB gene mutation sites at one time, can make up for the defect of poor timeliness in MPS VII detection by the existing diagnostic method, can also be used for pre-pregnancy carrier screening and prenatal diagnosis, and improves the quality of birth population.

Description

technical field [0001] The invention relates to the field of genetic disease gene detection, in particular to a probe composition, reagent, kit and detection method for detecting mucopolysaccharidosis type VII. Background technique [0002] Mucopolysaccharidosis (MPS) is a group of progressive multi-system involvement diseases induced by mucopolysaccharidosis (MPS) gene mutations in lysosomes leading to the loss of its activity, mucopolysaccharides cannot be degraded and stored in the body, including 7 The subtypes involve 11 lysosomal enzymes encoded by 11 genes, except for MPS II which is X-linked recessive, the rest are autosomal recessive. [0003] Mucopolysaccharidosis type VII (MPSVII, also known as Sly syndrome) is a very rare subtype, with an incidence of only 1 / 300,000 to 1 / 2,000,000. Mucopolysaccharidosis type VII is due to the deficiency of β-glucuronidase, which leads to the degradation of dermatan sulfate, heparan sulfate and chondroitin sulfate, and the deposi...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 张帅
Owner 江苏源隆医疗科技有限公司
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