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Mutant MYBPC3 gene and application thereof in preparation of hypertrophic cardiomyopathy detection kit

A technology for hypertrophic cardiomyopathy and detection kits, applied in the fields of human genetics and medical cardiovascular, to achieve the effect of reducing the birth of children

Inactive Publication Date: 2021-11-30
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

[0004] More than 200 mutations of the MYBPC3 gene have been found at home and abroad, which play an important role in both heart failure and pathological conditions. The molecular level reveals the pathogenesis of hypertrophic cardiomyopathy related to the MYBPC3 gene, which can provide a basis for the clinical treatment of hypertrophic cardiomyopathy. Provide a theoretical basis, but there are still a large number of unknown MYBPC3 gene mutation sites, and further discovery of new MYBPC3 gene mutation sites will help further research on hypertrophic cardiomyopathy, early diagnosis of hypertrophic cardiomyopathy, or assist clinical Judgment matters

Method used

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  • Mutant MYBPC3 gene and application thereof in preparation of hypertrophic cardiomyopathy detection kit
  • Mutant MYBPC3 gene and application thereof in preparation of hypertrophic cardiomyopathy detection kit
  • Mutant MYBPC3 gene and application thereof in preparation of hypertrophic cardiomyopathy detection kit

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Experimental program
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Effect test

Embodiment 2

[0051] Embodiment 2-Hypertrophic cardiomyopathy detection kit

[0052] This embodiment provides a kit for detecting the heterozygous missense variation of the human MYBPC3 gene c.3312_3313insGG, including 2×Taq MasterMix (Dye), primers capable of detecting the mutated MYBPC3 gene, etc. The specific composition of the kit is shown in Table 3 below Show.

[0053] The specific steps for using this kit to screen patients with the c.3312_3313insGG MYBPC3 gene mutation are: 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) The MYBPC3 gene was amplified to obtain a PCR product, and finally the PCR product was sequenced. The reference sequence obtained from the NCBI (https: / / www.ncbi.nlm.nih.gov / ) database is compared with the sequencing results to determine whether the subject’s MYBPC3 gene carries the c.3312_3313insGG heterozygous missense mutation, and to assist in clinical diagnosi...

Embodiment 3

[0056] Example 3 Mutation verification for normal people outside the family line

[0057] Referring to the method of Example 1 or using the hypertrophic cardiomyopathy detection kit of Example 2, 657 cases of unrelated normal people of the same race (i.e. normal people outside the family) were tested for the c.3312_3313insGG mutation site of the MYBPC3 gene, and the results were all failed The mutation was detected.

[0058] The results show that the c.3312_3313insGG heterozygous missense mutation of the MYBPC3 gene can lead to p.Ter173Gly changes in the protein encoded by the MYBPC3 gene, and the MYBPC3 gene is a known disease-causing gene, which once again proves that the c.3312_3313insGG heterozygous mutation of the MYBPC3 gene Missense variants are pathogenic variants.

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Abstract

The invention relates to the technical field of human genetics and internal medicine cardiovascular systems, in particular to a mutated MYBPC3 gene. A base GG is inserted at a genome position chr11:47354762; and the reference genome version is GRCh37. The invention further relates to a hypertrophic cardiomyopathy detection kit. The hypertrophic cardiomyopathy detection kit comprises a primer for amplifying the mutated MYBPC3 gene. The mutated MYBPC3 gene 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, the birth of child patients is reduced, and great significance is achieved in early diagnosis of hypertrophic cardiomyopathy or auxiliary clinical judgment.

Description

technical field [0001] The invention relates to the technical fields of human genetics and internal medicine cardiovascular technology, in particular to a mutated MYBPC3 gene and its application in the preparation of a hypertrophic cardiomyopathy detection kit. Background technique [0002] Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease with significant familial aggregation, called familial HCM (FHCM), and at least 15 pathogenic genes have been found, among which myosin- The C(MYBPC3) gene is located on chromosome 11q11.2, contains 35 exons, and expresses a disabled protein of 1274 amino acids. [0003] The MYBPC3 gene encodes cardiac myosin-binding protein C, which is expressed only in the myocardium and whose phosphorylation regulates cardiac contractility. MYBPC3 is the main pathogenic gene of familial hypertrophic cardiomyopathy. In addition, it is also related to the occurrence of other cardiomyopathy such as familial dilated cardiomyopathy ...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12N15/11C12Q1/6883
CPCC07K14/47C12Q1/6883C12Q2600/156
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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