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Mutant hereditary arrhythmia gene and application thereof

An arrhythmia, hereditary technology, applied in the fields of human genetics and medical cardiovascular, to achieve the effect of reducing the number of children born

Active Publication Date: 2022-01-21
百世诺(北京)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

At present, a large number of CASQ2 gene mutation sites have been found, such as c.4478C>T, c.4504C>T, c.5266C>T and: c.5368G>A, etc., but there are still unknown CASQ2 gene mutation sites, further discovery The new mutation site of CASQ2 gene is of great significance for studying the pathogenesis of catecholamine-sensitive ventricular tachycardia, early diagnosis of catecholamine-sensitive ventricular tachycardia, or assisting clinical judgment

Method used

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  • Mutant hereditary arrhythmia gene and application thereof
  • Mutant hereditary arrhythmia gene and application thereof
  • Mutant hereditary arrhythmia gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0020] Example 1 - Mutated Hereditary Arrhythmia Genes

[0021] Mutated hereditary arrhythmia genes, specific mutations are shown in Table 1 below:

[0022] Table 1 Specific detection results of mutated hereditary arrhythmia genes

[0023]

[0024] (1) At genomic position chr1:116283363-chr1:11628346, the sequence of the wild-type CASQ2 gene is:

[0025] is the base of the wild-type CASQ2 gene at chr1:116283425 in the genome, It is the base of the wild-type CASQ2 gene at chr1:116283372 in the genome.

[0026] At the corresponding position in the genome, the sequence of the mutant gene CASQ2 is:

[0027] is the base of the mutant gene CASQ2 at gene chr1:116283425, It is the base of the mutant gene CASQ2 at chr1:116283372 in the genome.

[0028] (2) The reference sequence of wild-type CASQ2 gene coding DNA is:

[0029] It is the 344th pre-mutation base of the wild-type CASQ2 gene encoding DNA reference sequence, It is the 397th pre-mutation base of...

Embodiment 2

[0039] Example 2-Detection kit for mutated hereditary arrhythmia gene

[0040] A detection kit for mutated hereditary arrhythmia genes, including Taq DNA polymerase, PCR buffer and primers, etc. The specific primers are as follows:

[0041]Upstream primer (CASQ2-E3F, SEQ ID NO: 1): 5'GTTCCACTAATCCTGACCCCA 3';

[0042] Downstream primer (CASQ2-E3R, SEQ ID NO:2): 5'ACAGTGCAATAATAGGTGCTC 3';

[0043] Length: 378bp.

[0044] The specific steps of using this kit to screen the mutated pathogenic gene CASQ2 are as follows: extract the DNA of the test subject, and then use the designed primer combination (SEQ ID NO: 1 and SEQ ID NO: 2) to amplify the CASQ2 gene to obtain For the PCR product, use 1.5% agarose gel electrophoresis to detect the PCR product, select 1000bp Marker as a reference, check and verify that the amplified product is the expected size, and finally sequence the PCR product. The reference sequence obtained from the NCBI (https: / / www.ncbi.nlm.nih.gov / ) database is...

Embodiment 3

[0045] Embodiment 3-family verification experiment

[0046] In this example, the family linkage analysis method was used to verify the pathogenicity of the mutated hereditary arrhythmia gene.

[0047] Specifically, three-generation members of a family with familial catecholamine-sensitive ventricular tachycardia were selected, and the proband (male, 9 years old) in this family was clinically diagnosed as catecholamine-sensitive ventricular tachycardia.

[0048] On the premise that the proband and his family members voluntarily sign the informed consent, 5-10mL whole blood samples will be sent, and a medical record database will be established to record the proband's condition and family status in detail. This study has been approved by the institutional ethics committee.

[0049] Description of the clinical profile of the proband:

[0050] Table 3 Clinical profile of the proband

[0051]

[0052]

[0053] The CASQ2 gene of the proband and his family members was tested...

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Abstract

The invention relates to the technical field of human genetics and internal medicine cardiovascular systems, in particular to a mutant hereditary arrhythmia gene, and compared with a reference sequence of wild type CASQ2 gene coding DNA, the nucleotide sequence of the mutant gene is SEQ ID NO:3; at a genome position chr1:116283425, a basic group A is mutated into a basic group G; at a genome position chr1:116283372, a base G is mutated into a base T; and the reference genome version is GRCh37. The invention also relates to application of the mutant gene in preparation of a detection kit. The mutant gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; and the detection of the carrier of the variation provides prenatal guidance and genetic counseling for subjects, reduces the birth of child patients, and has important significance for early diagnosis of catecholamine sensitive ventricular tachycardia or auxiliary clinical judgment.

Description

technical field [0001] The invention relates to the technical fields of human genetics and medical cardiovascular technology, in particular to a mutated hereditary arrhythmia gene and its application. Background technique [0002] Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a hereditary arrhythmia disease, which is a genetic disease with normal heart structure but sensitive to catecholamines. Main clinical manifestations: polymorphic ventricular tachycardia induced by physical activity, stress or catecholamine injection, syncope, sudden death, sinus node dysfunction, atrioventricular node dysfunction, atrial fibrillation, atrial arrest, left ventricular dysfunction , left ventricular dilatation, epilepsy. [0003] At present, two pathogenic genes related to CPVT have been found, which are autosomal dominant inheritance, encoding cardiac ryanodine receptor type 2 RYR2 gene (called CPVT1 type) and autosomal recessive inheritance, encoding cardiac muscle st...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12Q1/6883C12N15/11
CPCC07K14/4728C12Q1/6883
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(北京)医学检验实验室有限公司
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