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New mutated protein, new mutated gene and its application related to long Qt syndrome

A technology for mutant proteins and proteins, applied in the field of human mutant genes, can solve problems such as inability to explain pathogenic genes, and achieve the effect of promoting the research and development of innovative drugs and reducing the number of children born.

Active Publication Date: 2021-07-20
百世诺(北京)医学检验实验室有限公司
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  • Abstract
  • Description
  • Claims
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AI Technical Summary

Problems solved by technology

[0006] Currently, 15% to 20% of patients with long QT syndrome cannot be explained by known causative genes, suggesting that there may be undiscovered causative genes

Method used

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  • New mutated protein, new mutated gene and its application related to long Qt syndrome
  • New mutated protein, new mutated gene and its application related to long Qt syndrome
  • New mutated protein, new mutated gene and its application related to long Qt syndrome

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0043] Embodiment 1: long QT syndrome patient / carrier verification experiment

[0044] Sample source: Baoding First Central Hospital, on the premise that the long QT syndrome proband and his family voluntarily signed the informed consent, sent 5-10mL whole blood samples (added with EDTA anticoagulation, stored at -80 ℃), established The medical records database records the proband's condition, family status and other information in detail. This study has been approved by the institutional ethics committee.

[0045] Randomly collected 200 healthy samples unrelated to the long QT syndrome proband family as verification samples, each collected 2-4ml EDTA anticoagulant blood, and stored at -80°C.

[0046] 1. Preparation of Genomic DNA

[0047] Whole-genome DNA was extracted from human whole blood EDTA anticoagulated samples of the proband and verification samples, using the magnetic bead method whole blood genome DNA extraction kit, and the operation steps were carried out accor...

Embodiment 2

[0081] Example 2: Verification experiment of irrelevant samples-family screening of long QT syndrome

[0082] 1. Experimental method

[0083] A family with long QT syndrome was recruited (the family picture is shown in figure 1 shown), all family members (4 patients in the family and 4 normal people in the family) underwent laboratory examination, electrocardiogram and dynamic electrocardiogram examination, exercise electrocardiogram examination and imaging examination, and preliminarily confirmed that they were consistent with long QT syndrome family characteristics.

[0084] Through genetic testing, 4 patients with long QT syndrome were detected in this family; according to family members, a deceased member of this family was also a patient with long QT syndrome.

[0085] In addition, 1453 healthy people without long QT syndrome were recruited as controls.

[0086] The method in Example 1 was used to amplify the KCNH2 gene c.1369 of each member of the family and the cont...

Embodiment 3

[0097] Example 3: KCNH2 gene kit for in vitro detection of patients with long QT syndrome

[0098] 1. Kit composition:

[0099]

[0100] 2. How to use:

[0101] (1) Genomic DNA extraction: Use a DNA extraction kit to extract genomic DNA from peripheral blood samples.

[0102] (2) PCR amplification: PCR amplification was performed using the above-mentioned kit, and the reaction system and reaction conditions were referred to in Example 1.

[0103] (3) Purify the PCR amplification product.

[0104] (4) Perform Sanger sequencing on the purified PCR amplification products.

[0105] (5) Analyze the sequencing results and compare whether there is a heterozygous mutation of c.1369G>A in the KCNH2 gene.

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Abstract

The present invention discloses a mutated protein and a mutated KCNH2 gene. Compared with the human KCNH2 gene, it has c.1369G>A heterozygous missense variation. Research data verify that the mutation is related to long QT syndrome. Based on the request for protection of the above mutated protein and Use of the gene, and a kit for detecting long QT syndrome. The mutated KCNH2 gene provided by the present invention can distinguish long QT syndrome patients from normal people, and can be used as a biomarker for clinical auxiliary diagnosis of long QT syndrome; early screening of carriers of the mutation can provide subjects with Prenatal and postnatal guidance and genetic counseling; provide possible drug therapeutic targets for humans to overcome long QT syndrome.

Description

technical field [0001] The invention relates to a human mutant gene, in particular to a new mutant protein related to long QT syndrome, a new mutant gene and application thereof. Background technique [0002] Long QT syndrome (long QT syndrome, LQTS) is a monogenic hereditary cardiovascular disease with normal heart structure but delayed myocardial repolarization. VT leads to syncope and even SCD. The clinical phenotypes of long QT syndrome are diverse. Patients can be asymptomatic throughout their lives or develop SCD in childhood. In 2018, long QT syndrome was included in the "First List of Rare Diseases". According to the "Guidelines for the Diagnosis and Treatment of Rare Diseases (2019 Edition)", the incidence of long QT syndrome is estimated to be 1 / 2500 live births. The 10-year mortality rate of untreated patients with long QT syndrome can reach 50%. The onset characteristics of long QT syndrome are briefly summarized as follows: (1) The age of onset is young, and...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C07K14/47C12N15/12C12Q1/6883C12N15/11
CPCC07K14/47C12Q1/6883C12Q2600/106C12Q2600/156
Inventor 刘哲侯青梁庆渊刘锋李伟真刘福佳赵娜娜周小云刘昕超惠汝太
Owner 百世诺(北京)医学检验实验室有限公司
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