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A kit for detecting the 673rd base mutation of scn11a gene

A kit and gene technology, applied in the field of human mutation genes, can solve problems such as unclear causes of pain patients

Inactive Publication Date: 2016-08-31
HUAZHONG UNIV OF SCI & TECH
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the etiology of many patients with pain is unknown

Method used

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  • A kit for detecting the 673rd base mutation of scn11a gene
  • A kit for detecting the 673rd base mutation of scn11a gene
  • A kit for detecting the 673rd base mutation of scn11a gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0053] Example 1: Location of the causative site of peripheral nerve paroxysmal pain

[0054] 1. Collection and identification of pedigrees: The inventor collected two pedigrees with autosomal dominant peripheral nerve paroxysmal pain in Tonghua, Jilin and Beijing, Hebei, respectively, through medical examination and clinical diagnosis of the pioneer and his family. 19 patients from five generations of Tonghua family in Jilin figure 1 a, 16 peripheral blood samples of the family were collected; 10 patients from five generations of the Hebei-Beijing family figure 1 b, 13 peripheral blood samples were collected from this family.

[0055] 2. Genomic DNA extraction: Genomic DNA from peripheral blood samples was extracted using the Wizard Genomic DNA Extraction Kit from Promega, USA.

[0056] 3. Linkage analysis of the causative loci of peripheral nerve paroxysmal pain: The proband was selected to directly sequence the two reported pain-related sodium ion channel genes SCN9A an...

Embodiment 2

[0058] Example 2: Identification of causative genes for peripheral nerve paroxysmal pain

[0059] 1. Genomic DNA extraction: same as Example 1

[0060] 2. Exome sequencing of candidate genes

[0061] Exome sequencing was performed on the proband of the Jilin Tonghua family, and a mutation in another sodium channel protein gene SCN11A was found in the above segment, and Sanger sequencing verified that the mutation occurred in the coding region of exon 5 (c. 673C>T / p.R225C)( image 3 a). This gene is highly expressed in peripheral nerves. Some animal experiments have shown that this gene is related to pain, and it is speculated that this gene may be the causative gene of peripheral nerve paroxysmal pain. Therefore, Sanger sequencing was performed on all exons and exon-intron junctions of the gene in the Hebei-Beijing family.

[0062] The inventor used the Primer5 software to design exon-specific PCR amplification primers (as shown in Table 1), and synthesized these primers b...

Embodiment 3

[0088] Example 3: Verification of mutations in genes causing peripheral nerve paroxysmal pain

[0089] In order to verify the mutation of the present invention, we performed clinical examination on the collected family members with episodic pain in peripheral nerves to determine the patients and normal persons in the family, and collected 1021 normal persons outside the family. All family members who participated in the survey and were blood samples were informed about the purpose and significance of this study and gave informed consent.

[0090] 1. Genomic DNA extraction, as described above.

[0091] 2. Detection of SCN11A gene mutation by using mismatched primers to create restriction sites

[0092] The inventor found two missense mutations in the SCN11A gene in an autosomal dominant peripheral nerve episodic pain family, neither of which could change the restriction endonuclease site or generate a new restriction endonuclease site. The inventor used The method of generating...

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Abstract

The invention provides a variant SCN11A gene which is a pathogenic gene SCN11A of human peripheral nerve paroxysmal pain. The gene SCN11A is characterized in that the 673rd base of the variant SCN11A gene is varied from wild type C into T, or the 2423rd base of the variant SCN11A gene is varied from wild type C into G. The invention also provides a method for detecting whether a human biological sample has the gene mutation and a detection kit. The provided variant human SCN11A gene is applicable to prepare a diagnosis chip of the human peripheral nerve paroxysmal pain gene, and protein encoded by the variant human SCN11A gene can be used as a medicine target for treating human peripheral nerve paroxysmal pain.

Description

[0001] This application is a divisional application of No. 201310070553X patent application. The original application number is 201310070553X; the original application date is March 6, 2013; the original invention title is human peripheral nerve paroxysmal pain-causing gene and its encoded protein. technical field [0002] The invention relates to a gene mutated in the human body, that is, the human peripheral nerve paroxysmal pain-causing gene SCN11A. The present invention also relates to the function and significance of the variant gene and its coded protein in detection and as a drug target for treating human peripheral nerve paroxysmal pain diseases. Background technique [0003] Pain is the sensation produced when the human body is subjected to various noxious stimuli. It is a warning and protection system within the human body. It can cause the body to produce a passive defense response to avoid noxious stimuli, and has a protective effect on the body. However, excess...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 刘静宇张学姚镜
Owner HUAZHONG UNIV OF SCI & TECH
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