CN110684838A - Kit for detecting gene of hypertrophic cardiomyopathy - Google Patents
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- CN110684838A CN110684838A CN201911087205.7A CN201911087205A CN110684838A CN 110684838 A CN110684838 A CN 110684838A CN 201911087205 A CN201911087205 A CN 201911087205A CN 110684838 A CN110684838 A CN 110684838A
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- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
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- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
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- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6858—Allele-specific amplification
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Abstract
The invention provides a mutant gene and application thereof, which is human MYBPC3 gene c.A3544C heterozygous missense variation and application of the variation as a molecular marker of hypertrophic cardiomyopathy. Also provides application of a related reagent for detecting human MYBPC3 gene c.A3544C heterozygosis variation in preparation of a detection reagent for hypertrophic cardiomyopathy. The MYBPC3 gene c.A3544C heterozygous missense variation is applied to the preparation of a gene detection kit for hypertrophic cardiomyopathy, so that the aim of clinical auxiliary diagnosis can be fulfilled.
Description
Technical Field
The invention belongs to the field of molecular biology, and particularly provides a gene detection kit for hypertrophic cardiomyopathy.
Background
Hypertrophic Cardiomyopathy (HCM) is a myocardial disease characterized by cardiac hypertrophy, mainly manifested as left ventricular wall thickening, usually referring to ventricular septal or left ventricular wall thickness of more than or equal to 15mm measured by two-dimensional echocardiography, or thickness of more than or equal to 13mm in case of definite family history, usually accompanied by left ventricular cavity enlargement, and the need to eliminate the left ventricular wall thickening caused by increased load such as hypertension, aortic stenosis, congenital infraaortic septal septum, etc.
HCM is essentially characterized by high incidence of myocardial hypertrophy and sudden death. Sudden death, arrhythmia, left ventricular outflow tract obstruction, cardiac ischemia, systolic heart failure, diastolic new function insufficiency, etc., are common symptoms and death reasons of HCM. The clinical symptoms of the disease have large variability, some patients can have no symptoms for a long time, and some patients have sudden death as the first symptom. Gene mutations are the most fundamental cause of most HCM patients, most HCM patients are inherited in autosomal dominant manner, about 60 percent of adult HCM patients can detect definite disease-causing gene mutations, and at present, molecular genetic studies prove that 40 to 60 percent of the adult HCM patients are gene mutations for encoding sarcomere structural proteins, and 27 disease-causing genes are found to be related to HCM. It has been found that about 7% of HCM patients have polygenic or complex mutations, and the onset is earlier than that of single-gene mutant, the clinical manifestation is heavier, and the prognosis is worse. The exon rate of HCM pathogenic genes is 40% -100%, and the heterogeneity of the onset age is also large. The same family carries members of the same pathogenic gene, and clinical phenotypes appear in different morning and evening. In addition, HCM presents a number of phenocopy problems, with at least 26 diseases presenting the clinical phenotype of HCM, accounting for 5% -10% of adult HCM. Based on the characteristics, the missed diagnosis and misdiagnosis rate of HCM diagnosis through traditional physical examination such as echocardiography, Doppler myocardial imaging and strain examination, cardiac magnetic resonance and the like are high, and the prevalence rate is underestimated. Therefore, the gene detection has important significance for early detection and identification of preclinical and subclinical-manifestation patients, auxiliary clinical diagnosis, early intervention and improvement of prognosis of patients.
At present, gene detection is an important means for determining hypertrophic cardiomyopathy, and therefore, the discovery and the proposal of any one or a group of related genes of hypertrophic cardiomyopathy can be an important technical contribution to the field. The prior art CN102242212A discloses a hypertrophic cardiomyopathy genotyping method and a PCR detection kit, wherein the method comprises the following steps: a. b, detecting gene mutation of genes MYH7, MYBPC3 and TNNT2 in sample DNA, wherein the detection of the gene mutation comprises PCR amplification sequencing of gene exons of MYH7, MYBPC3 and TNNT2, and comparing the sequence obtained by amplification in the step a with standard sequences in a database, so that a genotyping result is determined. The invention has the beneficial effects that (1) the early diagnosis is assisted: finding asymptomatic genetic affected persons and non-genetic affected persons in the family members; (2) the auxiliary guidance of selective breeding can prevent the disease from spreading in the family. The prior art CN107287317A relates to an application of MYH7-A934V mutant gene in preparation of a kit for diagnosing hypertrophic cardiomyopathy. The invention also relates to a hypertrophic cardiomyopathy diagnostic kit which comprises a PCR primer designed according to the MYH7-A934V mutant gene. The invention provides a mutation of MYH7 gene in Chinese population, and explains the correlation of the mutant gene and hypertrophic cardiomyopathy. The kit disclosed by the invention is simple in detection method, low in cost, direct and reliable in detection result, and suitable for large-scale screening and diagnosis of mutation of MYH7 gene A934V in hypertrophic cardiomyopathy.
The invention provides a new mutation site of MYBPC3 gene and a detection kit thereof, which are used for clinically (auxiliarily) diagnosing hypertrophic cardiomyopathy, providing genetic block for families carrying pathogenic mutation of hypertrophic cardiomyopathy and improving the quality of prenatal and postnatal care.
Other references to background art:
[1] the cardiovascular disease division of the Chinese medical society comprises accurate cardiovascular disease groups, the China medical care International Association, accurate cardiovascular disease divisions and the like.
[2] Chinese society for medical science, cardiovascular disease, the chinese society for diagnosis and treatment of hypertrophic cardiomyopathy, the chinese journal of cardiovascular disease editorial committee [ J ]. chinese guidelines for diagnosis and treatment of hypertrophic cardiomyopathy, 2017, 45 (12): 1015-1032.
[3]Elliott PM,Anastasakis A,Borger MA,et al.2014 ESC Guidelines ondiagnosis and management of hypertrophic cardiomyopathy:the Task Force forthe Diagnosis and Management of Hypertrophic Cardiomyopathy of the EuropeanSociety of Cardiology(ESC)[J].European Heart Journal,2015,68(1):63-63.
Disclosure of Invention
By analyzing family members of hypertrophic cardiomyopathy, the invention unexpectedly discovers that: hypertrophic cardiomyopathy patients in the pedigree have MYBPC3 gene c.A3544C heterozygous missense variation, and no diseased members in the pedigree detect the variation, which indicates that the variation is closely related to hypertrophic cardiomyopathy.
The above findings were validated by a considerable number of unrelated samples, including 200 healthy control members and 1 patient member of hypertrophic cardiomyopathy, based on the rareness of hypertrophic cardiomyopathy. After verification: none of the 200 phenotypically healthy control members detected the variation; a MYBPC3 gene c.a3544c heterozygous missense variation was detected in 1 patient member of hypertrophic cardiomyopathy.
Further expansion of the number of negative samples, no variation was detected in the volunteer samples expanded to 1206 randomized phenotypically healthy control members.
The number of positive samples was further expanded, and the variation was detected in a range of volunteer samples expanded to 3 randomized patient members.
This demonstrates that this mutation can be used to detect hypertrophic cardiomyopathy.
Based on the findings, the technical problem to be solved by the invention is to provide a new pathogenic gene variation related to hypertrophic cardiomyopathy, a detection method and a kit for the variation, and application of the variation and the kit in clinical auxiliary diagnosis of hypertrophic cardiomyopathy.
First, the invention provides a mutant gene, wherein the mutation is MYBPC3 gene c.A3544C heterozygous missense mutation (MYBPC3: p.S1182R het). The mutation was found to be a rare mutation by querying the population frequency database (thousand genomes: none, ESP 6500: none, ExAC: none). Before the mutation is discovered, the mutation is carried by the disease-related families which are not reported in the existing database, and the database comprises but is not limited to people in all regions of China. The deletion mutation changes the polar uncharged serine at position 1151 into the polar positively charged arginine, then the amino acid is expressed in a frame shift mode, and a stop codon appears in advance at the 6 th amino acid, so that the protein can be expressed in a truncated mode. Inquiring an Interpro database to find that the site is located in EGF-like calcium-binding domain (IPR001881), and the binding of the structural domain and calcium ions can protect protein from hydrolysis and has an important effect on protecting the integrity of fibril protein-1. The Clinvar and the HGMD databases are inquired to find out no variation, and the literature search finds out no report that the variation is related to diseases. The mutations c.3444del (p.Asn1149Thrfs) and c.3432dup (p.Gln1145Serfs) around this site have been reported as pathogenic mutations in hypertrophic cardiomyopathy.
The invention also provides application of a related reagent for detecting human MYBPC3 gene c.A3544C heterozygosis variation in preparation of a gene detection reagent for hypertrophic cardiomyopathy.
The reagent comprises a related reagent for detecting human MYBPC3 gene c.A3544C heterozygosis variation; also included are optional reagents for amplifying a nucleic acid fragment comprising bases 3543-3545 of the coding region of the human MYBPC3 gene.
As used herein, the methods for detecting heterozygous missense variation of the human MYBPC3 gene c.a3544c include, but are not limited to, any alternative detection method for the locus of gene variation in the prior art: such as Sanger sequencing, Restriction Fragment Length Polymorphism (RFLP), Single Strand Conformation Polymorphism (SSCP), or allele specific oligonucleotide hybridization (ASO).
Uses as described above, including but not limited to qualitative and/or quantitative detection of human MYBPC3 gene c.a3544c heterozygous missense variants.
As previously mentioned, the quantitative detection includes, but is not limited to, any alternative detection method for genes in the prior art, such as fluorescent quantitative PCR.
As mentioned above, the related reagent for detecting human MYBPC3 gene c.A3544C heterozygosis variation is a reagent for sequencing, a fluorescent quantitative PCR reagent, a reagent for a restriction enzyme fragment length polymorphism method or a reagent for single-strand conformation polymorphism analysis.
The invention also provides a gene detection kit for hypertrophic cardiomyopathy, which comprises an optional related reagent for detecting human MYBPC3 gene c.A3544C heterozygous missense variation.
The kit comprises related reagents for detecting human MYBPC3 gene c.A3544C heterozygosis variation; also included are optional reagents for amplifying a nucleic acid fragment comprising bases 3543-3545 of the coding region of the human MYBPC3 gene.
The related reagent for detecting human MYBPC3 gene c.A3544C heterozygosis variation is a sequencing reagent.
As with the aforementioned kit, the reagents related to detection of human MYBPC3 gene c.a3544c heterozygous missense variation include, but are not limited to, any alternative detection reagent for gene variation sites in the prior art: such as Sanger sequencing, Restriction Fragment Length Polymorphism (RFLP), Single Strand Conformation Polymorphism (SSCP), or allele specific oligonucleotide hybridization (ASO).
The kit comprises but is not limited to reagents for qualitatively and/or quantitatively detecting human MYBPC3 gene c.A3544C heterozygous missense variation.
As with the aforementioned kit, the quantitative detection reagent includes, but is not limited to, any alternative detection reagent for genes in the prior art, such as a fluorescent quantitative PCR detection reagent.
Another object of the present invention is to detect this variation using Sanger sequencing, comprising the steps of:
(1) amplifying the MYBPC3 gene using a designed primer combination;
(2) purifying the amplified product by purified magnetic beads;
(3) carrying out Sanger sequencing on the purified PCR product;
(4) and (5) analyzing a sequencing result.
Specifically, the sequences of the PCR amplification primers used in the step (1) are as follows:
the present invention has the following advantageous effects
1. The MYBPC3 gene c.A3544C heterozygosis mutation can distinguish patients with hypertrophic cardiomyopathy from normal people, so that the mutation can be used as a biomarker for clinically and auxiliarily diagnosing hypertrophic cardiomyopathy.
2. By detecting whether the subject carries the variation or not, the carrier of the variation can be detected, and the prenatal and postnatal care guidance and the genetic counseling are provided for the subject, so that the birth of the infant patient is reduced.
3. Provides possible drug treatment targets for human to overcome hypertrophic cardiomyopathy and promotes the research and development of innovative drugs.
Drawings
FIG. 1 is a family diagram of hypertrophic cardiomyopathy;
FIG. 2 is a Sanger sequencing graph of controls in the family and controls in the local database;
figure 3 is a Sanger sequencing plot of patients.
Detailed Description
The experimental procedures used in the following examples are, unless otherwise specified, routine procedures used by those skilled in the art. Materials, reagents and the like used in the following examples are commercially available unless otherwise specified.
It should be specifically noted that the following examples are only for further description of the present invention and should not be construed as limiting the present invention. The present invention is intended to cover such modifications, alterations and adaptations without departing from the spirit and scope of the present invention.
Example 1: patient/carrier verification experiment
Sample source: in the third national hospital in Qingdao, 5-10mL of whole blood sample is sent on the premise that the proband and the family voluntarily sign informed consent, a medical record database is established, and the data of the disease condition, the family condition and the like of the proband are recorded in detail. The study was approved by the ethical committee of the unit.
1. Preparation of genomic DNA
Extracting whole genome DNA of a human whole blood EDTA anticoagulation sample, and detecting the concentration and purity of the DNA.
2. Preparation of PCR amplification reagent (1 reaction System)
The PCR amplification reagent is used for amplifying a DNA sequence containing a target gene locus, and the composition of the PCR amplification reagent is shown in the table 1
The PCR Mix in Table 1 contains the following components: taq DNA Polymerase, PCR Buffer, Mg2+Components required by conventional PCR, such as dNTPs, a PCR stabilizer, an enhancer and the like; the information of the upstream and downstream primers required for amplification is shown in Table 2 below:
TABLE 2 upstream and downstream primer information
3. Amplification of a fragment of interest
The reaction systems were mixed, and amplification reaction of the target gene fragment was performed on a PCR instrument, and the amplification procedure was as shown in table 3 below. After amplification, the PCR product was purified using Agencour AMPure XP magnetic beads (available from Kurther mercurial, Inc., Beckman, China).
TABLE 3 PCR amplification procedure
Detection of PCR products
2 mu L of PCR product is taken, 1.5% agarose gel electrophoresis is used for detecting the PCR product, and 1000bp Marker is selected as reference.
Purification of PCR products
5.1 vortex the beads for 30 seconds to mix thoroughly as a homogeneous solution.
5.2 Add the PCR product to be purified to a 1.5mL centrifuge tube, followed by a 2 sample volume of magnetic bead solution. After vortexing and mixing, the mixture was vortexed at 1400rpm for 5 minutes at room temperature.
5.3 put the centrifuge tube from the previous step on the magnetic rack until the magnetic beads are completely adsorbed (about 1 minute).
5.4 keep the centrifuge tube fixed to the magnetic rack, discard the solution, while avoiding contact with the magnetic beads.
5.5 after adding 500 mul Buffer PW into the centrifuge tube in the previous step, taking the centrifuge tube off the magnetic frame, performing vortex oscillation for 10 seconds, then putting the centrifuge tube back to the magnetic frame again, standing for 1 minute, and completely discarding the rinsing liquid after the magnetic beads are completely adsorbed on the side wall of the centrifuge tube.
5.6 repeat step 5.5.
5.7 keeping the centrifugal tube fixed on the magnetic frame, standing for 10 minutes to completely volatilize the ethanol.
5.8 remove the tube from the magnetic frame, add 20-100. mu.L Buffer EB, vortex and shake to resuspend the beads in the eluent, then place the tube on a Thermomixer at 65 ℃ and 1400rpm and shake for 5 minutes.
5.9 Place the tube on the rack until the beads are fully adsorbed (about 1 min).
5.10 transfer the eluate to a new 1.5mL centrifuge tube, at which point the beads can be discarded.
Sanger sequencing
Sanger sequencing was performed using an Applied Bio systems 3500Dx series Gene Analyzer.
7. And (5) performing bioinformatics analysis on the sequencing result.
8. Demonstration of genetic variation: the results indicated that this sample carried MYBPC3 gene c.a3544c heterozygous missense variation.
Example 2: kit for detecting gene of hypertrophic cardiomyopathy
1. Kit Components
Example three: irrelevant samples validation experiment: genetic testing of hypertrophic cardiomyopathy families
1. Experimental methods
1 hypertrophic cardiomyopathy family is recruited, and the skeletal system, the skin system, the eye system, the nervous system and the cardiovascular system of all family members are comprehensively checked to preliminarily confirm that the hypertrophic cardiomyopathy accords with the characteristics of the hypertrophic cardiomyopathy.
By gene detection, 3 patients with hypertrophic cardiomyopathy were detected in this family, and 1 of the deceased members in this family also had hypertrophic cardiomyopathy according to the introduction of family members (the family map is shown in FIG. 1).
In addition, 1206 healthy persons not suffering from hypertrophic cardiomyopathy were recruited as controls.
MYBPC3: p.s1182r het of each member of the family and control population was amplified using the method described in example 1 and analyzed after Sanger sequencing after amplification was complete.
Based on sample information confidentiality, part of the sample information is now disclosed.
The sample can disclose information:
1. family country/region: China/Shandong
The proportion of family members to male and female is as follows: 5: 4
Age distribution of family members: 19-65 years old
2. Country/region of recruiter: china (China)
Proportion of recruiters to male and female: 1: 1
Age distribution of recruiters: 12-70 years old
2. Results
Sequencing results show that the diseased members in the family carry c.A3544C heterozygous missense variation; while the non-affected members and the control population in the family do not have any mutation at any of the above sites. Normal and mutant site sequencing maps are shown in fig. 2 and 3.
The above detailed description is specific to one possible embodiment of the present invention, and the embodiment is not intended to limit the scope of the present invention, and all equivalent implementations or modifications without departing from the scope of the present invention should be included in the technical scope of the present invention.
Claims (10)
1. A MYBPC3 mutant gene comprising a human MYBPC3 gene c.a3544c heterozygous missense variation.
2. Use of the MYBPC3 mutant gene of claim 1 in the preparation of a detection reagent for hypertrophic cardiomyopathy.
3. Use of a reagent for detecting human MYBPC3 gene c.A3544C heterozygosis variation in preparation of a detection kit for hypertrophic cardiomyopathy.
4. The use according to claim 2 or 3, wherein the detection kit is a gene detection kit.
5. The use of claim 3, wherein the reagent for detecting human MYBPC3 gene c.A3544C heterozygous missense variation is a sequencing reagent.
6. The use according to claim 3, wherein the reagent for detecting heterozygous missense variation of the human MYBPC3 gene c.A3544C is one or more of a Sanger sequencing reagent, a fluorescent quantitative PCR reagent, a reagent for a restriction enzyme fragment length polymorphism method, a reagent for single-strand conformation polymorphism analysis and a reagent for allele-specific oligonucleotide hybridization.
7. A gene detection kit for hypertrophic cardiomyopathy is characterized by comprising an optional reagent for detecting human MYBPC3 gene c.A3544C heterozygous missense variation.
8. The kit of claim 7, wherein the reagents for detecting human MYBPC3 gene c.A3544C heterozygous missense variation are sequencing reagents.
9. The kit of claim 7, wherein the reagent for detecting human MYBPC3 gene c.A3544C heterozygous missense variation is a Sanger sequencing reagent.
10. A method for detecting the mutant gene of claim 1 using Sanger sequencing, comprising the steps of:
(1) amplifying the MYBPC3 gene using a designed primer combination;
(2) purifying the amplified product by purified magnetic beads;
(3) carrying out Sanger sequencing on the purified PCR product;
(4) and (5) analyzing a sequencing result.
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Cited By (7)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN111675759A (en) * | 2020-07-15 | 2020-09-18 | 中南大学 | Hypertrophic cardiomyopathy pathogenic gene and application thereof |
| CN112322718A (en) * | 2020-11-05 | 2021-02-05 | 百世诺（北京）医疗科技有限公司 | Early-onset coronary heart disease gene detection kit |
| CN113430206A (en) * | 2021-08-16 | 2021-09-24 | 百世诺（北京）医疗科技有限公司 | MYBPC3 mutant gene and hypertrophic cardiomyopathy detection kit |
| CN113684273A (en) * | 2021-09-08 | 2021-11-23 | 百世诺(北京)医学检验实验室有限公司 | Dilated cardiomyopathy detection kit based on mutant DSG2 gene |
| CN114959005A (en) * | 2021-12-31 | 2022-08-30 | 河南省人民医院 | Hypertrophic cardiomyopathy diagnosis product based on molecular marker and application thereof |
| CN115011681A (en) * | 2021-12-31 | 2022-09-06 | 河南省人民医院 | Marker molecule related to hypertrophic cardiomyopathy and application of marker molecule in diagnosis of hypertrophic cardiomyopathy |
| CN115851751A (en) * | 2022-12-21 | 2023-03-28 | 百世诺（北京）医疗科技有限公司 | Hypertrophic cardiomyopathy variant gene TNNT2 and application thereof |
Citations (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN102242212A (en) * | 2011-07-08 | 2011-11-16 | 泰普生物科学（中国）有限公司 | HCM (Hypertrophic Cardiomyopathy) genotyping method and kit |
| CN104293771A (en) * | 2014-10-29 | 2015-01-21 | 北京大学 | High-flux simple and convenient purification method by magnetic beads for sequencing product |
| CN110129439A (en) * | 2019-04-28 | 2019-08-16 | 安徽鼎晶生物科技有限公司 | A kind of people BRCA1/2 genetic mutation detection quality-control product and its preparation method and application |
-
2019
- 2019-11-08 CN CN201911087205.7A patent/CN110684838A/en active Pending
Patent Citations (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN102242212A (en) * | 2011-07-08 | 2011-11-16 | 泰普生物科学（中国）有限公司 | HCM (Hypertrophic Cardiomyopathy) genotyping method and kit |
| CN104293771A (en) * | 2014-10-29 | 2015-01-21 | 北京大学 | High-flux simple and convenient purification method by magnetic beads for sequencing product |
| CN110129439A (en) * | 2019-04-28 | 2019-08-16 | 安徽鼎晶生物科技有限公司 | A kind of people BRCA1/2 genetic mutation detection quality-control product and its preparation method and application |
Non-Patent Citations (5)
| Title |
|---|
| VISWANATHAN SK, ET AL.: "Genetic variant may be effective marker for hypertrophic cardiomyopathy", 《JAMA CARDIOL.》 * |
| 刘旭霞等: "目标基因捕获测序技术检测1例肥厚型心肌病致病基因突变", 《临床检验杂志》 * |
| 刘福颂等: "肥厚型心肌病一家系", 《中华心血管病杂志》 * |
| 张芷毓等: "秦川牛TRAF6基因多态及其与体尺性状的关联分析", 《中国牛业科学》 * |
| 杨清玲，吕静竹主编: "《分子生物学实验指导》", 31 December 2016 * |
Cited By (11)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN111675759A (en) * | 2020-07-15 | 2020-09-18 | 中南大学 | Hypertrophic cardiomyopathy pathogenic gene and application thereof |
| CN111675759B (en) * | 2020-07-15 | 2021-08-06 | 中南大学 | Hypertrophic cardiomyopathy pathogenic gene and application thereof |
| CN112322718A (en) * | 2020-11-05 | 2021-02-05 | 百世诺（北京）医疗科技有限公司 | Early-onset coronary heart disease gene detection kit |
| CN112322718B (en) * | 2020-11-05 | 2021-07-20 | 百世诺（北京）医疗科技有限公司 | Early-onset coronary heart disease gene detection kit |
| CN113430206A (en) * | 2021-08-16 | 2021-09-24 | 百世诺（北京）医疗科技有限公司 | MYBPC3 mutant gene and hypertrophic cardiomyopathy detection kit |
| CN113430206B (en) * | 2021-08-16 | 2021-11-26 | 百世诺（北京）医疗科技有限公司 | MYBPC3 mutant gene and hypertrophic cardiomyopathy detection kit |
| CN113684273A (en) * | 2021-09-08 | 2021-11-23 | 百世诺(北京)医学检验实验室有限公司 | Dilated cardiomyopathy detection kit based on mutant DSG2 gene |
| CN114959005A (en) * | 2021-12-31 | 2022-08-30 | 河南省人民医院 | Hypertrophic cardiomyopathy diagnosis product based on molecular marker and application thereof |
| CN115011681A (en) * | 2021-12-31 | 2022-09-06 | 河南省人民医院 | Marker molecule related to hypertrophic cardiomyopathy and application of marker molecule in diagnosis of hypertrophic cardiomyopathy |
| CN115011681B (en) * | 2021-12-31 | 2023-04-18 | 河南省人民医院 | Marker molecule related to hypertrophic cardiomyopathy and application of marker molecule in diagnosis of hypertrophic cardiomyopathy |
| CN115851751A (en) * | 2022-12-21 | 2023-03-28 | 百世诺（北京）医疗科技有限公司 | Hypertrophic cardiomyopathy variant gene TNNT2 and application thereof |
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Inventor after: Liu Zhe Inventor before: Liu Zhe Inventor before: Hui Rutai Inventor before: Hou Qing Inventor before: Liang Qingyuan Inventor before: Liu Feng Inventor before: Li Weizhen Inventor before: Liu Fujia Inventor before: Zhao Nana Inventor before: Zhou Xiaoyun Inventor before: Liu Xinchao |
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Application publication date: 20200114 |