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Human peripheral nerve paroxysmal pain causing gene and its coding protein

A peripheral nerve, gene technology, applied in genetic engineering, plant genetic improvement, animal/human peptides, etc., can solve the problem of unclear causes of pain patients

Inactive Publication Date: 2013-07-31
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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  • Human peripheral nerve paroxysmal pain causing gene and its coding protein
  • Human peripheral nerve paroxysmal pain causing gene and its coding protein
  • Human peripheral nerve paroxysmal pain causing gene and its coding protein

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0092] Example 1: Location of the causative site of peripheral nerve paroxysmal pain

[0093] 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.

[0094] 2. Genomic DNA extraction: Genomic DNA from peripheral blood samples was extracted using the Wizard Genomic DNA Extraction Kit from Promega, USA.

[0095] 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

[0097] Example 2: Identification of causative genes for peripheral nerve paroxysmal pain

[0098] 1. Genomic DNA extraction: same as Example 1

[0099] 2. Exome sequencing of candidate genes

[0100] 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.

[0101] The inventor used the Primer5 software to design exon-specific PCR amplification primers (as shown in Table 1), and synthesized these primers by ...

Embodiment 3

[0127] Example 3: Verification of mutations in genes causing peripheral nerve paroxysmal pain

[0128] 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.

[0129] 1. Genomic DNA extraction, as described above.

[0130] 2. Detection of SCN11A gene mutation by using mismatched primers to create restriction sites

[0131] 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 generati...

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Abstract

The invention provides a variant SCN11A gene which is a human peripheral nerve paroxysmal pain causing gene. The variant SCN11A gene is characterized in that the 673th base of the variant SCN11A gene mutates into T from wild type C; or the 2423th base of the variant SCN11A gene mutates into G from wild type C. The invention also provides a method for detecting whether the mutation of the gene in a human biological sample exists or not, and a detection kit thereof. The variant SCN11A gene can be used for making human peripheral nerve paroxysmal pain causing gene diagnosis chips, and a protein coded by the variant SCN11A gene can be used as a drug target for treating peripheral nerve paroxysmal pains.

Description

technical field [0001] 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 [0002] 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, excessive noxious stimulation will not only cause strong pain, but also lead to the disorder of the body's physiological functions, and even shock. Human pain is divided into acute pain and chronic pain. Acute pain protects the human body from injury and is a physiological early warning signal of tissue dam...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/68
Inventor 刘静宇张学姚镜
Owner HUAZHONG UNIV OF SCI & TECH
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