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TTN mutant gene and dilated cardiomyopathy detection kit

A technology of dilated cardiomyopathy and a detection kit, which is applied in the fields of human genetics and internal medicine and cardiovascular, can solve the problem of limited TTN gene mutation sites, reduce the number of births in children, and promote the research and development of innovative drugs

Pending Publication Date: 2021-11-26
百世诺(北京)医疗科技有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] The TTN gene is closely related to the pathogenesis of DCM, but the mutation sites of the TTN gene reported so far are still very limited. Finding any mutation site of the TTN gene is an important technical contribution to the field, and will help prevent or diagnose DCM. Bring new hope to more patients

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  • TTN mutant gene and dilated cardiomyopathy detection kit
  • TTN mutant gene and dilated cardiomyopathy detection kit
  • TTN mutant gene and dilated cardiomyopathy detection kit

Examples

Experimental program
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Effect test

Embodiment 2

[0046] Embodiment 2-a dilated cardiomyopathy detection kit

[0047] This example provides a kit for detecting heterozygous missense variation of human TTN gene c.1800+1G>A, including 2×Taq MasterMix (Dye), primers designed according to the TTN mutant gene, etc. The specific composition of the kit is as follows Table 4 shows.

[0048] The specific steps for screening dilated cardiomyopathy 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:3 and SEQ ID NO:4) to perform TTN gene Amplify to obtain PCR products, and finally sequence the PCR products. The reference sequence obtained from the NCBI (https: / / www.ncbi.nlm.nih.gov / ) database is compared with the sequencing results to determine whether the TTN gene of the test subject carries the c.1800+1G>A heterozygous missense mutation, To assist in the clinical diagnosis of whether the test subject suffers from dilated cardi...

Embodiment 3

[0052] Example 3 Mutation verification for normal people outside the family line

[0053] Referring to the method of Example 1, 289 cases of unrelated normal people of the same race (i.e. normal people outside the family line) were tested for the c.1800+1G>A mutation site of the TTN gene, and the results failed to detect the mutation, which once again proved that TTN The c.1800+1G>A heterozygous missense variant of the gene is the pathogenic variant of dilated cardiomyopathy.

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Abstract

The invention relates to the technical field of human genetics and internal medicine cardiovascular systems, in particular to a TTN mutant gene. The TTN mutant gene is characterized in that a base G is mutated into a base A at a genome position chr2: 179655434; and the reference genome version is GRCh37. The invention also relates to a dilated cardiomyopathy detection kit. The human TTN mutant gene provided by the invention can distinguish patients with dilated cardiomyopathy from normal people, and can be used as a biomarker for clinical auxiliary diagnosis of dilated cardiomyopathy; by detecting a carrier of the variation, prenatal guidance and genetic counseling can be provided for a subject, and birth of a child patient is reduced; and a possible drug target is provided for human beings to treat dilated cardiomyopathy, and research and development of innovative drugs are promoted.

Description

technical field [0001] The invention relates to the technical fields of human genetics and internal medicine cardiovascular technology, in particular to a TTN mutation gene and dilated cardiomyopathy detection kit. Background technique [0002] Dilated cardiomyopathy (Dilated cardiomyopathy, DCM) is a kind of myocardial disease of unknown cause, which is characterized by dilated left ventricle and / or double ventricle and weakened myocardial systolic function. The clinical manifestations are progressive heart failure, arrhythmia, thromboembolism or sudden death. [0003] The pathogenesis of DCM is related to genetic factors. According to different modes of inheritance, the pathogenic genes of DCM can be divided into autosomal dominant pathogenic genes and X-linked genetic pathogenic genes. Autosomal dominant pathogenic genes include TTN gene, ACTC gene, DES gene, MYH7 gene, LMNA gene and TTNT2 gene, etc. Among them, the TTN gene is located on autosome 2p31 and encodes titin...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 刘哲
Owner 百世诺(北京)医疗科技有限公司
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