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A kind of scn5a mutation gene, application and detection kit for brugada syndrome

A technology for detecting kits and mutated genes, which is applied in the fields of human genetics and cardiovascular, can solve the problem of limited mutated genes, achieve the effect of reducing the birth of sick children and promoting the research and development of innovative drugs

Active Publication Date: 2022-02-01
百世诺(保定)医学检验实验室有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Since Chen (Genetic basis and molecular mechanism for idiopathic ventricular fibrillation, Nature, 1998,392:293-296) discovered the first SCN5A gene mutation in 1988, numerous mutation genes related to Brugada syndrome have been reported in the world. However, due to the randomness and non-directionality of gene mutations and the rarity of Brugada syndrome, the mutated genes discovered so far are still very limited, and the discovery of any gene related to Brugada syndrome is an important technical contribution to this field

Method used

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  • A kind of scn5a mutation gene, application and detection kit for brugada syndrome
  • A kind of scn5a mutation gene, application and detection kit for brugada syndrome
  • A kind of scn5a mutation gene, application and detection kit for brugada syndrome

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Embodiment 2

[0043] Embodiment 2-a kind of Brugada syndrome detection kit

[0044] This embodiment provides a kit for detecting the c.4915C>T heterozygous missense variation of the human SCN5A gene, including 2×Taq MasterMix (Dye), primers capable of detecting the SCN5A mutant gene, etc. The specific composition of the kit is shown in Table 4 shown.

[0045] Table 4 Kit Composition

[0046]

[0047] The specific steps for screening Brugada syndrome using this kit are as follows: extract the DNA of the test subject according to the steps in Example 1, and then use the designed primer combination (SEQ ID NO:5 and SEQ ID NO:6) to amplify the SCN5A gene PCR products were obtained, and finally the PCR products were sequenced. Obtained reference sequences from the NCBI (https: / / www.ncbi.nlm.nih.gov / ) database and compared the sequencing results to determine whether the subject’s SCN5A gene carries the c.4915C>T heterozygous missense mutation, and to assist clinical Determine whether the test...

Embodiment 3

[0048] Example 3 - Mutation verification for normal people outside the family line

[0049] Referring to the method of Example 1, 500 cases of unrelated normal people of the same race (ie, normal people outside the family) were tested for the c.4915C>T mutation site of the SCN5A gene, and the mutation was not detected.

[0050] Based on the above results, and based on the c.4915C>T heterozygous missense mutation of the SCN5A gene, the protein encoded by the SCN5A gene will undergo p.Leu1639Phe changes, and the SCN5A gene is a known pathogenic gene of Brugada syndrome, thus proving again that The c.4915C>T heterozygous missense variant of SCN5A gene is the pathogenic variant of Brugada syndrome.

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Abstract

The present invention relates to the fields of human genetics and cardiovascular technology, and specifically relates to a SCN5A mutant gene, at the genome position chr3:38592894, the base C is mutated into a base T; the reference genome version is GRCh37. The present invention also relates to the application of the above-mentioned SCN5A mutation gene in preparing a Brugada syndrome detection kit, and relates to a Brugada syndrome detection kit. The SCN5A mutated gene provided by the present invention can distinguish Brugada syndrome patients from normal people, and can be used as a biomarker for clinical auxiliary diagnosis of Brugada syndrome; detection of carriers of the mutation can provide prenatal and postnatal guidance and genetic counseling for subjects , reduce the birth of children; provide new drug targets for humans to overcome Brugada syndrome, and promote the development of innovative drugs.

Description

technical field [0001] The invention relates to the technical fields of human genetics and cardiovascular technology, in particular to a SCN5A mutation gene, its application and a detection kit for Brugada syndrome. Background technique [0002] Brugada syndrome belongs to autosomal dominant inheritance. Clinical observation shows that the disease has a strong family heredity. It often causes syncope or sudden death due to ventricular fibrillation (ventricular fibrillation) or polymorphic ventricular tachycardia. Link (V 1-3 ) The ST segment is elevated in a downslope or saddle shape. Since the Brugada brothers first reported Brugada (Brugada syndrome, Brs) as a new disease in 1992, Brugada syndrome has attracted extensive attention from clinicians and researchers. [0003] Brugada syndrome is one of the important diseases that cause sudden death from idiopathic ventricular fibrillation. In terms of prevention, it is very passive and passive. With the discovery of more an...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11C12N15/12
CPCC12Q1/6883C07K14/47C12Q2600/156C12Q2600/136
Inventor 刘哲梁庆渊赵娜娜赖开生刘昕超高璇李方玉侯青惠汝太
Owner 百世诺(保定)医学检验实验室有限公司