CN115786356B - Arrhythmia right ventricular dysplasia cardiomyopathy variant gene CDH2 and application thereof - Google Patents
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Abstract
The invention relates to the technical field of gene detection, in particular to a variant gene CDH2 of arrhythmia right ventricular dysplasia cardiomyopathy, which is characterized in that the 1439 th base A of the variant gene CDH2 is mutated into a base C, and the nucleotide sequence is SEQ ID NO:1, compared with the reference sequence SEQ ID NO:5 of a wild CDH2 gene. The invention also relates to application of the arrhythmia right ventricular dysplasia cardiomyopathy mutation gene CDH2 in preparation of a detection kit. The arrhythmia right ventricular dysplasia cardiomyopathy mutation gene CDH2 provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; the detection of the variant carrier provides the instruction of prenatal and postnatal care and genetic consultation for the subject, reduces the birth of the infant, and has important significance for early diagnosis of arrhythmia right ventricular dysplasia cardiomyopathy or auxiliary clinical judgment.
Description
Technical Field
The invention relates to the technical field of gene detection, in particular to a cardiac myopathy variation gene CDH2 causing arrhythmia and right ventricular dysplasia and application thereof.
Background
The arrhythmia right ventricular dysplasia cardiomyopathy (ARVC) is a common type of arrhythmia cardiomyopathy, also called right ventricular cardiomyopathy, and the prevalence is about 1:2000-5000. Clinically, ventricular arrhythmias, progressive heart failure, and even sudden cardiac death are often manifested, especially in young people and athletes, one of the most common causes of sudden death. About 20-30% of patients have a family history of ARVC or sudden death. The disease is one of hereditary cardiomyopathy, mostly autosomal dominant inheritance, accompanied by incomplete exon and differential expression, and also rarely autosomal recessive inheritance, such as Naxos disease. If the disease can be found and diagnosed early, the incidence rate of malignant events can be effectively reduced by intervening in life style, reducing strenuous exercise, preventing early medication and other measures.
The arrhythmogenic right ventricular dysplasia cardiomyopathy-associated gene CDH2 encodes classical cadherins and cadherin superfamily members, and the encoded preproteins are proteolytically processed by proteases to produce calcium-dependent cell adhesion molecules and glycoproteins. The protein plays a role in the establishment of left-right asymmetry, development of the nervous system, and formation of cartilage and bone.
The related gene detection of the suspected cases is helpful to early diagnosis and clinical intervention of the right ventricular dysplasia cardiomyopathy caused by arrhythmia according to the willingness of patients, so as to achieve the purposes of delaying the occurrence of the diseases or preventing the diseases. Revealing the pathogenesis of the arrhythmia right-cell dysplasia cardiomyopathy related to the CDH2 gene from the molecular level, providing theoretical basis for clinical treatment of the arrhythmia right-cell dysplasia cardiomyopathy, but currently, a large number of unknown CDH2 gene mutation sites still exist, further finding out new variant genes CDH2 is helpful for further researching the arrhythmia right-cell dysplasia cardiomyopathy, and has important significance for early diagnosis of the arrhythmia right-cell dysplasia cardiomyopathy or assisting clinical judgment.
Disclosure of Invention
The invention aims at providing a arrhythmia right-cell dysplasia cardiomyopathy mutation gene CDH2 and application thereof.
The invention aims to provide that: the variant gene CDH2 of the arrhythmia right ventricular dysplasia cardiomyopathy is characterized in that the 1439 th base A of the variant gene CDH2 is mutated into a base C, and the nucleotide sequence is SEQ ID NO 1, compared with the reference sequence SEQ ID NO 5 of a wild CDH2 gene; compared with the amino acid sequence SEQ ID NO. 6 of the wild CDH2 gene encoding protein, the amino acid sequence of the mutant gene CDH2 encoding protein is SEQ ID NO. 2.
The invention successfully screens out the variant gene CDH2 through a large number of experiments, researches and analyses, and utilizes the variant gene CDH2 to develop a detection kit capable of rapidly, sensitively and effectively detecting the variant gene CDH 2. The specific information of the variant gene CDH2 is shown in the following table:
TABLE 1 variant genes CDH2
The invention also provides application of the arrhythmia right ventricular dysplasia cardiomyopathy mutation gene CDH2 in preparing a detection kit, wherein the detection kit comprises primers for amplifying the mutation gene CDH2, and the sequences of the primers are SEQ ID NO. 3 and SEQ ID NO. 4.
Preferably, the kit for treating the right ventricular dysplasia cardiomyopathy comprises PCR premix, a negative control reagent and a positive control reagent.
The invention has the beneficial effects that: the variant gene CDH2 disclosed by the invention can be used as a biomarker for clinically assisting in diagnosing the arrhythmia-caused right ventricular dysplasia cardiomyopathy, and has important significance for early diagnosis of the arrhythmia-caused right ventricular dysplasia cardiomyopathy or assisting in clinical judgment; the kit based on the reagent development of the variant gene CDH2 can distinguish patients carrying the CDH2c.1439A > C heterozygous missense mutation from normal people, provides the instruction of prenatal and postnatal care and genetic consultation for subjects, and reduces the birth of children.
Drawings
FIG. 1 is a diagram of Sanger sequencing of example 1 with CDH2c.1439A > C patients;
FIG. 2 is a diagram of the family of arrhythmogenic right ventricular dysplasia cardiomyopathy in example 2.
Detailed Description
The following is a further detailed description of the embodiments, but is not intended to limit the invention thereto.
The experimental methods in the following examples are conventional methods unless otherwise specified. Materials, reagents and the like used in the following examples are commercially available unless otherwise specified.
Reagent source: PCR premix: 2 XTaq Master mix (Dye), available from Jiangsu kang as century Biotech Co., ltd., product number: l01037/70335; comprises the following components: taq DNA Polymerase PCR Buffer, mg 2+ Components required for conventional PCR such as dNTPs, PCR stabilizers and enhancers. Agencourt AMPure XP magnetic beads: purchased from beckmann coulter trade (china), product number: 311303. the amplification primers were all synthesized by the division of biological engineering (Shanghai). RNase-Free H 2 O: purchased from beijing solebao technologies limited. Whole blood genome DNA extraction kit by magnetic bead method: purchased from Jiangsu Baishino medical science and technology Co., ltd., lot number: 20031886-01C.
Example 1: verification experiment of variant gene CDH2c.1439A > C
On the premise that the patient with arrhythmia right ventricular dysplasia cardiomyopathy and family members thereof are voluntarily signed with informed consent, 5-10mL of human whole blood EDTA anticoagulation sample is sent, a medical record database is established, and the patient condition, family condition and other data are recorded in detail. The study was approved by the ethics committee of this unit.
S1, extracting genome DNA: the method comprises the steps of extracting whole genome DNA from an EDTA anticoagulated sample of human whole blood of a patient by using a magnetic bead method whole blood genome DNA extraction kit of Jiangsu Baishino medical science and technology Co., ltd, and performing the operation steps according to the product specification. The concentration and purity of the DNA were examined and used as template DNA for PCR amplification.
S2, preparing a PCR reaction system: the PCR reaction system is used for amplifying a section of DNA sequence containing target gene loci, and comprises the following components: 25. Mu.L of PCR premix, 2. Mu.L of forward primer (10. Mu.M), 2. Mu.L of reverse primer (10. Mu.M), less than 1000ng of template DNA, and RNase-Free H2O was added to make up to 50. Mu.L. The forward and reverse primer information used is as follows:
forward primer (SEQ ID NO: 3): 5'AAATCTGTGCAGTAATCATGT 3'; reverse primer (CDH 2-E18-R, SEQ ID NO: 4): 5'TATAAGCCTCTGAAAGTTCCC 3'. Length: 859bp.
S3, amplifying target fragments: mixing the reaction systems, and carrying out amplification reaction of target gene fragments on a PCR instrument, wherein the amplification procedure is as follows: pre-denaturation at 95℃for 2min; denaturation at 90℃for 20s, annealing at 55℃for 20s, elongation at 72℃for 30s, and a total of 33 cycles. Final extension at 72℃for 2min.
S4, detecting PCR products: 2 mu L of PCR product is taken, 1.5% agarose gel electrophoresis is used for detecting the PCR product, 1000bp Marker is selected as a reference, and detection is performed to verify that the amplified product is in the expected size.
S5, purifying a PCR product: after PCR product detection, the PCR product is purified by using Agencourt AMPure XP magnetic beads, and the purification steps are carried out according to the product specification, and specifically include the following steps: (1) Vortex the beads for 30s to thoroughly mix them into a homogeneous solution. (2) To a 1.5mL centrifuge tube, the PCR product to be purified was added, followed by 2 sample volumes of the magnetic bead solution. After vortexing and mixing, vortexing was performed for 5min at room temperature on a thermo mixer at 1400 rpm. (3) The centrifuge tube of the last step is placed on a magnetic rack for about 1min until the magnetic beads are completely adsorbed. (4) The centrifuge tube was kept fixed on a magnetic rack, and the solution was discarded while avoiding contact with the magnetic beads. (5) After 500 mu L Buffer PW is added into the centrifuge tube in the last step, the centrifuge tube is taken down from the magnetic rack, the centrifuge tube is put back into the magnetic rack again after vortex oscillation for 10s, and the centrifuge tube is kept stand for 1min, and the rinsing liquid is thoroughly discarded after the magnetic beads are completely adsorbed on the side wall of the centrifuge tube. (6) repeating the step (5). (7) Keeping the centrifuge tube fixed on the magnetic rack for standing for 10min, and completely volatilizing the ethanol. (8) Taking the centrifuge tube off the magnetic frame, adding 20-100 mu L Buffer EB, suspending the magnetic beads in the eluent by vortex oscillation, and then placing the centrifuge tube on a thermo mixer at 65 ℃ and 1400rpm for oscillation elution for 5min. (9) The centrifuge tube was placed on a magnetic rack for about 1min until the beads were fully adsorbed. (10) The eluate was transferred to a new 1.5mL centrifuge tube, at which point the beads were discarded.
S6, sanger sequencing was performed on the amplified products using a Applied Biosystems 3500Dx series gene analyzer.
S7, performing bioinformatics analysis on the sequencing result: the sequencing results were aligned with the wild-type CDH2 gene sequences (SEQ ID NO:5 and SEQ ID NO: 6) obtained in NCBI (https:// www.ncbi.nlm.nih.gov /) in software Chromas to determine whether a mutation occurred in the detection site.
S8, carrying out genetic variation demonstration: the patient detects the missense mutation of the CDH2c.1439A > C heterozygosity, namely, compared with the reference sequence SEQ ID NO. 5 of the wild CDH2 gene, the 1439 base A of the mutant gene CDH2 is mutated into a base C, and the nucleotide sequence is SEQ ID NO. 1; compared with the amino acid sequence SEQ ID NO. 6 of the wild CDH2 gene encoding protein, the amino acid sequence of the mutant gene CDH2 encoding protein is SEQ ID NO. 2, and the Sanger sequencing chart is shown in FIG. 1.
Thousands of genomes were searched (https:// www.ncbi.nlm.nih.gov/variation/tools/1000genome /): and no. ClinVar (https:// www.snpedia.com/index. Php/ClinVar): and no. ESP6500 (https:// ESP. Gs. Washington. Edu/drive /): and no. ExAC (http:// exac.hms.harvard.edu /): and no. HGMD (http:// www.hgmd.c.ac.uk/ac/index. Php): and no. Neither the cardiomyopathy patients in the century Nuo local population database nor the control population carried the variation.
The results of cross prediction using multiple bioinformatics prediction software (including SIFT and Polyphen-2, etc.) are mostly harmless (SIFT is "T", polyphen-2 is "B", mutantion Taster_pred is "N", the VEST3 score is "0.563", and the other is "3N/3T"), the amino acid is changed from polar positively charged histidine to non-polar proline, suggesting that the amino acid change due to the mutation may affect protein function. Query the database found that the amino acid at this position was well conserved in vertebrates.
According to the existing evidence: the mutation is rare mutation, and the mutation is suspicious pathogenic mutation of arrhythmia right ventricular dysplasia cardiomyopathy.
Example 2: sample validation experiment
2500 arrhythmogenic right ventricular dysplasia cardiomyopathy patients and 1000 healthy people not suffering from arrhythmogenic right ventricular dysplasia cardiomyopathy were recruited. CDH2c.1439a > C was amplified for each member of the family and for healthy populations using the method of example 1, and analyzed after Sanger sequencing was performed after amplification.
Based on the confidentiality of the sample information, a part of the sample information is now disclosed. The sample may disclose information: (1) arrhythmogenic right ventricular dysplasia cardiomyopathy family; country/region: china/Chongqing; family member male-female ratio: 1:1; family member age distribution: 10-60 years old; (2) country/region of healthy people: china/Chongqing; healthy population male-female ratio: 1:1; age distribution of healthy population: 12-60 years old.
The diseased members carry CDH2c.1439A > C heterozygous missense variation only in the recruited arrhythmogenic right ventricular dysplastic cardiomyopathy family (family diagram is shown in figure 2), the father of the foreigners in the family carries CDH2c.1439A > C heterozygous missense variation, but the clinical symptoms are not yet shown, and follow-up is noted; the healthy population did not see any of the mutations at any of the above sites.
Example 3: detection kit
1. The composition is as follows:
TABLE 2 composition
2. The using method comprises the following steps: (1) genomic DNA extraction: the genomic DNA of the peripheral blood sample was extracted using a DNA extraction kit. (2) PCR amplification: PCR amplification was performed using the above-described kit, and the reaction system and reaction conditions were as described in example 1. (3) purifying the PCR amplification product. (4) Sanger sequencing of the purified PCR amplification product. (5) The sequencing results were analyzed and aligned for the presence of CDH2c.1439A > C heterozygous missense variation.
The foregoing describes in detail preferred embodiments of the present invention. It should be understood that numerous modifications and variations can be made in accordance with the concepts of the invention by one of ordinary skill in the art without undue burden. Therefore, all technical solutions which can be obtained by logic analysis, reasoning or limited experiments based on the prior art by the person skilled in the art according to the inventive concept shall be within the scope of protection defined by the claims.
Claims (3)
1. The arrhythmia right ventricular dysplasia cardiomyopathy mutation gene CDH2 is characterized in that the 1439 th base A of the mutation gene CDH2 is mutated into a base C, and the nucleotide sequence is SEQ ID NO:1, compared with the reference sequence SEQ ID NO:5 of a wild type CDH2 gene.
2. The use of a primer for detecting the arrhythmia right ventricular dysplasia cardiomyopathy mutation gene CDH2 as set forth in claim 1 in the preparation of a detection kit, wherein the sequences of the primer are SEQ ID NO. 3 and SEQ ID NO. 4.
3. The use according to claim 2, wherein the detection kit further comprises a PCR premix, a negative control reagent and a positive control reagent.
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