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Mutated TTN gene and hypertrophic cardiomyopathy detection kit

A technology of hypertrophic cardiomyopathy and detection kits, applied in the fields of human genetics and internal medicine and cardiovascular, to achieve the effect of reducing the birth of children with patients

Active Publication Date: 2022-04-12
百世诺(北京)医学检验实验室有限公司
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  • Description
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  • Application Information

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Problems solved by technology

[0004] Revealing the pathogenesis of hypertrophic cardiomyopathy related to TTN gene at the molecular level can provide a theoretical basis for the clinical treatment of hypertrophic cardiomyopathy, but there are still a large number of unknown TTN gene mutation sites, and further discovery of new TTN gene mutations The site will help further research on hypertrophic cardiomyopathy, and is of great significance to the early diagnosis of hypertrophic cardiomyopathy or to assist clinical judgment

Method used

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  • Mutated TTN gene and hypertrophic cardiomyopathy detection kit

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Embodiment 2

[0045] Embodiment 2-Hypertrophic cardiomyopathy detection kit

[0046] This embodiment provides a kit for detecting the c.16469T>G heterozygous missense variation of the human TTN gene, including 2×Taq MasterMix (Dye), primers capable of detecting the mutated TTN gene, etc. The specific composition of the kit is as follows 2.

[0047] The specific steps of using this kit to screen patients with c.16469T>G TTN 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 TTN gene is amplified to obtain a PCR product, and finally the PCR product is sequenced. Obtained reference sequences from the NCBI (https: / / www.ncbi.nlm.nih.gov / ) database and compared the sequencing results to determine whether the TTN gene of the test subject carries the c.16469T>G heterozygous missense mutation to assist clinical Determine whether the test subject has a c.16469T>G TTN gene mutat...

Embodiment 3

[0051] Example 3 Mutation verification for normal people outside the family line

[0052] With reference to the method of Example 1 or using the hypertrophic cardiomyopathy detection kit of Example 2, 370 cases of normal people with no relationship to the same race (i.e. normal people outside the family) were detected for the c.16469T>G mutation site of the TTN gene, and the results were all The mutation could not be detected.

[0053] The results showed that the c.16469T>G heterozygous missense mutation based on the TTN gene would lead to p.Ter173Gly changes in the protein encoded by the TTN gene, and the TTN gene is a known pathogenic gene, which once again proved that the c. 16469T>G heterozygous missense variant is a pathogenic variant.

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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 TTN gene which is characterized in that a base T is mutated into a base G at a genome position chr2: 179610658; the reference genome version is GRCh37. The invention also relates to a hypertrophic cardiomyopathy detection kit which comprises the primer for amplifying the mutated TTN gene. The mutant TTN gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; the detection of the carrier of the variation provides prenatal guidance and genetic counseling for subjects, reduces the birth of child patients, and is of great significance 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, in particular to a mutated TTN gene and a detection kit for hypertrophic cardiomyopathy. Background technique [0002] Hypertrophic cardiomyopathy (HCM) is the most common hereditary heart disease, which belongs to autosomal dominant inheritance. sudden death. [0003] TTN gene is the gene encoding titin, which is expressed in cardiac muscle and skeletal muscle. The protein has a large molecular weight and spans 1 / 2 of the sarcomere. It is an important structural protein. TTN gene mutations can lead to dilated cardiomyopathy, HCM and various cardiomyopathy. The types of pathogenic mutations are mainly truncating mutations. [0004] Revealing the pathogenesis of hypertrophic cardiomyopathy related to TTN gene at the molecular level can provide a theoretical basis for the clinical treatment of hypertrophic cardiomyopathy, but there are still a large n...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
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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