CN107287317A - MYH7 A934V mutators are used for the application for preparing Diagnosis of Hypertrophic Cardiomyopathy kit - Google Patents
MYH7 A934V mutators are used for the application for preparing Diagnosis of Hypertrophic Cardiomyopathy kit Download PDFInfo
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Abstract
It is used for the application for preparing Diagnosis of Hypertrophic Cardiomyopathy kit the present invention relates to MYH7 A934V mutators.The invention further relates to hypertrophic cardiomyopathy diagnostic kit, the kit includes the PCR primer designed according to MYH7 A934V mutators.The invention provides a kind of mutation that there is MYH7 genes in Chinese population, and illustrate that the mutator is related to hypertrophic cardiomyopathy.Using the present invention kit test method is simple, cost is low, testing result directly, it is reliable, it is adaptable to the large-scale examination and diagnosis being mutated to hypertrophic cardiomyopathy MYH7 Gene As 934V.
Description
Technical field
It is more specifically a kind of to utilize MYH7 genes the present invention relates to the gene diagnosis kit of hypertrophic cardiomyopathy
The kit of A934V abrupt climatic changes, the kit and method can be used for auxiliary diagnosis and the early diagnosis of the disease, belong to biological
Technical field.
Background technology
Hypertrophic cardiomyopathy (Hypertrophic Cardiomyopathy, HCM), be it is a kind of with myocardium progressive it is plump,
Ventricular chamber progressive, which reduces, to be characterized, and is obstructed with left ventricle blood engorgement, diastole compliance drops to basic pathology feature
Cardiomyopathies.Hypertrophic cardiomyopathy is most common autosomal dominant angiocardiopathy.Its incidence of disease is 1:500,
There is 2,600,000 hypertrophic cardiomyopathy people in China in prediction on such basis, but this incidence of disease is underestimated.And many hypertrophic cardiac muscles
The clinical manifestation of disease is more various mainly can asymptomatic or slight uncomfortable in chest, pectoralgia, palpitaition, atrial fibrillation, ventricular arrhythmia, the heart
Force failure, sudden cardiac death etc., wherein sudden cardiac death are the first cause that young man dies suddenly, and are often occurred in disease early stage
The young man of sudden death is a lot, and this may be asymptomatic undiscovered with early stage of disease or thinked little of relevant.Therefore the hypertrophic heart
The early diagnosis of myopathy people is particularly important.
The content of the invention
The present invention is entered by the family member to 1 hypertrophic cardiomyopathy and 200 normal control member's MYH7 genes
Row examination, it is found that hypertrophic cardiomyopathy has MYH7-A934V mutational sites.The examination of 200 normal persons is not detected by this
Mutation, illustrates that the mutational site and hypertrophic cardiomyopathy gene are closely related.
Based on above-mentioned discovery, it is used to prepare Diagnosis of Hypertrophic Cardiomyopathy examination the invention provides MYH7-A934V mutators
The application of agent box.
Present invention also offers a kind of hypertrophic cardiomyopathy diagnostic kit, the kit is included according to MYH7-A934V
The PCR primer of mutator design.
In a kind of embodiment, the PCR primer of the invention according to the design of MYH7-A934V mutators is：
MYH7-A934V-F：5’-TTCTCTGTTGCGTGTTTCTC-3’；
MYH7-A934V-R：5’-TCCCCTCTGTTCCTCACCTT-3’.
In a kind of embodiment, kit of the invention includes：
20ul 10X PCR buffer solutions,
4ul 10mM dNTP mixed liquors,
2ul 5unit/ul Taq archaeal dna polymerases,
10ul 10pmol/ul MYH7-A934V-F：5 '-TTCTCTGTTGCGTGTTTCTC-3 ',
10ul 10pmol/ul MYH7-A934V-R：5’-TCCCCTCTGTTCCTCACCTT-3’.
In one embodiment of the invention provide one detection MYH7 gene mutations kit, this kit built with
Composition to detect MYH7 Gene As 934V mutation, it can audit, have through governmental drug management organization concurrently to provide
Close medicine or biological products manufacture, using and sales information.For example, after being expanded using PCR, directly detecting MYH7 bases in sample
, can be containing amplimer, dNTP, for the PCR archaeal dna polymerases reacted and its buffer solution, sequencing because of the kit in mutational site
The one or more of reagent etc. needed for reaction.It is known to those skilled in the art that above component is only illustrative, for example, described
Primer can use a pair above-mentioned of MYH7-A934V-F and MYH7-A934V-R primers, and the described DNA for being used for PCR reactions gathers
Synthase can be used for the enzyme of PCR amplifications.
The present invention collects hypertrophic cardiomyopathy by the outpatient service of ultrasound medicine section, in the voluntary premise of patient and family members
Under, after signature informed consent form, 5-10ml blood samples are left and taken, medical history information storehouse is set up, recorded in conditions of patients, family fall ill in detail
Situation and contact method.Then application phenol chloroform method extracts genomic DNA, is put in storage after quantifying, -20 DEG C of preservations, often
Part DNA accurately corresponds to the patient clinical data of registration.Primer is designed according to Primer Premier 5.0, MYH7 is included
Gene A 934V sites and both sides sequence, enter performing PCR amplification.Direct Sequencing is carried out to PCR primer：Sequencing primer and pcr amplification primer
Thing is identical, and forward and reverse sequencing is carried out using ABI companies 3730DNA sequenators.By the standard sequence in obtained sequence and Genbank
Row are compared, and determine A934V mutational sites.Translated to determine MYH7 gene mutation sites by normal reading frame.
Using hypertrophic cardiomyopathy people as research object, by 4 patient and his family set members and 200 normal controls
The examination of MYH7 gene coding regions extron, it is found that a patient has the mutation of MYH7 genes newly on exon 3.The patient
For a heterozygote.This mutation is undiscovered in 200 control groups, illustrates this change site and MYH7 gene-correlations.
The A934V missense mutation of MYH7 genes so that alanine mutation is valine, amino acid is changed, A934
Position is also highly conserved sequence between species, therefore for the important functional area of protein, the amino acid change meeting that the site occurs
Influence the function of albumen and then occur disease.
The invention provides a kind of mutation that there is MYH7 genes in Chinese population, and illustrate the mutator and fertilizer
The correlation of thicker cardiomyopathy.Meanwhile, using the present invention kit test method is simple, cost is low, testing result directly, can
Lean on, it is adaptable to the large-scale examination and diagnosis being mutated to hypertrophic cardiomyopathy MYH7 Gene As 934V.
Brief description of the drawings
Fig. 1 is the part sequencing result of MYH7 gene extrons 23, and A is the base sequence that wild type is not undergone mutation；B
It is the sequence for occurring base mutation for heterozygous.
Fig. 2 is certain family three generations's HCM pedigree charts, and square frame represents male in figure, and circle represents women, and blacking is HCM patient,
Hollow is normal person, and oblique line represents death ,+number MYH7-A934V being represented ,-number a representative does not carry MYH7-A934V.
Embodiment
The present invention is further described with reference to the accompanying drawings and detailed description, so that the public has more to the content of the invention
Deep understanding, not limitation of the present invention, all any this area equivalent substitutions carried out according to the disclosure of invention,
Belong to protection scope of the present invention.
Inventor predicts hypertrophic cardiomyopathy gene, image and Comprehensive Clinical the Study on Transformation of sudden death, to Chinese plump
Type cardiomyopathy family propositus carries out the polygenes detection of high flux capture sequencing technologies, and testing result carries out family checking, obtained
To the hereditary variation closely related with disease.
Early stage collects hypertrophic cardiomyopathy by Ultrasonography outpatient service, on the premise of patient and family members are voluntary, signature
After informed consent form, leave and take 5-10ml blood samples, set up medical history information storehouse, record in detail conditions of patients, in family incidence with
And contact method.And two dimensional echocardiogram, twelve-lead electrocardiogram are carried out to patient and normal family members.Patient adds that to do 24 small again
When Holter, heart nuclear magnetic resonance, ultrasonic load cardiogram.This research has obtained the approval of Ethics Committee of our unit.
Inventor targets exon trapping technology to 308 fertilizer using 96 related gene high fluxs of hypertrophic cardiomyopathy
Thicker cardiomyopathy family propositus detected, bioinformatic analysis filters benign variation, then to all family propositus and
Family members carry out generation sequence verification and genotype and the family isolated of clinical phenotypes is verified, benign variation is filtered again, is looked for
Going out may pathogenic mutation.The HCM798 familys in these familys, as shown in Figure 2.
After bioinformatic analysis and family checking, as a result show that all HCM patients carry MYH7-A934V bases
Because making a variation, as shown in Figure 1.
And do not shown as in family except two family members that the age is less than ten years old carry MYH7-A934V gene mutation sites
HCM, may not also arrive age of onset, and that remaining does not carry the mutational site is normal person, also not sent out in 200 normal persons
The variant sites are not found in the existing mutational site, data of normal people storehouse yet, therefore the variation is possible for the thicker cardiac muscle that causes fat
The pathogenic mutation site of disease.Therefore it is found that MYH7 Gene A 934V mutational sites belong to HCM when pathogenic analysis and family are verified
The possibility Disease-causing gene mutational site of 798 familys.It is not report that inventor, which has consulted HGMD databases and ClinVar databases,
Mutational site, belong to newfound pathogenic mutation site.
Embodiment 1：The detection method of MYH7 Gene A 934V heterozygous mutants
One, research objects
Hypertrophic cardiomyopathy is collected by Ultrasonography outpatient service, on the premise of patient and family members are voluntary, signature is known
After letter of consent, 5-10ml blood samples are left and taken, medical history information storehouse is set up, incidence and connection in conditions of patients, family are recorded in detail
It is mode.This research has obtained the approval of Ethics Committee of our unit.
Two, prepare genomic DNA
First day
1. in the presence of anti-coagulants EDTA, by the 5-10ml human peripherals of collection in 2500rpm, centrifugation is removed for 30 minutes
Serum deprivation；
2. adding 0.2%NaCl solution, it is 50ml to make cumulative volume.Gently vibration solution 5-6 times, and make it be positioned on ice
15 minutes；
3. being centrifuged 30 minutes in 2500rpm, sediment is collected whereby；
4. with 0.2% NaCl solution, washed again in a manner similar to before；
5. in the sediment so obtained, 10mMTris-HCl (pH8.0) and 10mM EDTA (4ml) is added, to suspend
The sediment；
6. by 10%SDS, 25mg/ml Proteinase K and 10mg/ml RNaseA are added in suspension, its addition difference
For 4ml, 16ul and 20ul, the suspension that then turns upside down is gently mixed；
7. in 37 DEG C of Overnight incubation suspensions.
Second day
1. 4ml phenol/Tris solution is added, the mixture obtained by the mixture that turns upside down mixing；
2. it is centrifuged 10 minutes with 3000rpm and removes water layer；
3. water layer and 4ml phenol/chloroformic solution are mixed, then inverse mixed merging is centrifuged 10 minutes with 3000rpm；
4. removing water layer, to obtain aqueous phase, Jia 1/10 thereto, 3M NaAC (pH5.2), twice with chloroform recovery twice
The cold absolute ethyl alcohol of amount, precipitates DNA；
5. washed to obtain genomic DNA with 70% ethanol；
6. making the DNA being achieved in that, genomic DNA is dissolved in TE, then quantitative determines absorption of the mixture in 260nm
Rate；
7.DNA working solution concentration corrections put -20 DEG C of refrigerator preservations to 50ng/ul.
The PCR amplifications of three .MYH7 Gene As 934
1. primer sequence
Sense primer：MYH7-A934V-F：5’-TTCTCTGTTGCGTGTTTCTC-3’
Anti-sense primer：MYH7-A934V-R：5’-TCCCCTCTGTTCCTCACCTT-3’
2.PCR reaction systems
The PCR reaction systems of table 1
The MYH7 Gene A 934V fragment PCR courses of reaction of table 2
Embodiment 2：The kit of the detection of MYH7 Gene A 934V heterozygous mutants
One, compositions：Include it is amplifiable go out MYH7 Gene A 934V heterozygous mutants site primer pair, and its sequencing is corresponding
Reagent, composition and content are as follows, in -20 DEG C of preservations：
20ul 10X PCR buffer solutions (Beijing Tiangeng),
4ul 10mM dNTP mixed liquors (Beijing Tiangeng),
2ul (5unit/ul) Taq archaeal dna polymerases (Takara),
Each 10ul (10pmol/ul) F1 (HCM ID NO.1) and R1 (HCM ID NO.2) primer (self-control),
1.5ml pure water (self-control).
The application method of kit mainly comprises the following steps described in two,：
(1) DNA of blood sample to be measured is extracted, a pair of MYH7- shown in sequence table HCM ID No.1, HCM ID No.2 are utilized
A934V-F and MYH7-A934V-R primers, carry out pcr amplification reaction；
(2) PCR reaction products direct Sequencing after purification, the standard sequence in obtained sequence and Genebank is determined prominent
Become the presence in site.
(3) translated according to normal reading frame and there is the amino acid mutation site to determine that number is no.
Inventor to the two generations sequencing of 300 hypertrophic cardiomyopathy people and carries out a generation by mentioned reagent box to its family members
Checking, the patient for carrying MYH-A934V gene mutations has 4, and remaining two children also carries the mutational site.But clinically
Hypertrophic cardiomyopathy can't be diagnosed as, may be with not arriving age of onset also, but Disease-causing gene carrying is diagnosed to be as early as possible
Person can advise its regular follow-up, reach early diagnosis, and early treatment and prevention are died suddenly.
Specific method is referring to the detailed description in preceding embodiment.
This kit can quickly and easily detect mutational site described in MYH7 genes, so that applied to hypertrophic cardiomyopathy
The abrupt climatic change of case and diagnoses and treatment.
Nucleotides sequence list e-file
<110>The Fourth Military Medical University of P.L.A
<120>MYH7-A934V mutators are used for the application for preparing Diagnosis of Hypertrophic Cardiomyopathy kit
<141>
<160>
<210>1
<211>20
<212>DNA
<213>MYH7-A934V-F
<220>
<223>
<400>1
5’-TTCTCTGTTGCGTGTTTCTC-3’
<210>2
<211>20
<212>DNA
<213>MYH7-A934V-R
<220>
<223>
<400>2
5’-TCCCCTCTGTTCCTCACCTT-3’
Claims (4)
1.MYH7-A934V mutator is used for the application for preparing Diagnosis of Hypertrophic Cardiomyopathy kit.
2. a kind of hypertrophic cardiomyopathy diagnostic kit, it is characterised in that：The kit includes being mutated according to MYH7-A934V
The PCR primer of gene design.
3. hypertrophic cardiomyopathy diagnostic kit as claimed in claim 1, it is characterised in that：It is described prominent according to MYH7-A934V
Become gene design PCR primer into：
MYH7-A934V-F：5’-TTCTCTGTTGCGTGTTTCTC-3’；
MYH7-A934V-R：5’-TCCCCTCTGTTCCTCACCTT-3’.
4. a kind of hypertrophic cardiomyopathy diagnostic kit, it is characterised in that：The kit includes：
20ul 10X PCR buffer solutions,
4ul 10mM dNTP mixed liquors,
2ul 5unit/ul Taq archaeal dna polymerases,
10ul 10pmol/ul MYH7-A934V-F：5 '-TTCTCTGTTGCGTGTTTCTC-3 ',
10ul 10pmol/ul MYH7-A934V-R：5’-TCCCCTCTGTTCCTCACCTT-3’.
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Cited By (4)
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| CN111607641A (en) * | 2019-02-26 | 2020-09-01 | 中国人民解放军第四军医大学 | Novel gene mutation site causing congenital membrane cataract, detection method and application |
| CN111808942A (en) * | 2020-06-18 | 2020-10-23 | 中国人民解放军空军军医大学 | Application of primer designed according to LAMP2-H260fs mutant gene in preparation of Danon disease diagnostic kit |
| 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 |
| CN115109136A (en) * | 2022-06-23 | 2022-09-27 | 南昌大学第二附属医院 | Myh7 gene mutation, detection kit and method for constructing animal model thereof |
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Cited By (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN111607641A (en) * | 2019-02-26 | 2020-09-01 | 中国人民解放军第四军医大学 | Novel gene mutation site causing congenital membrane cataract, detection method and application |
| CN111607641B (en) * | 2019-02-26 | 2022-08-09 | 中国人民解放军第四军医大学 | Molecular marker of new gene mutation site causing congenital membrane cataract and kit thereof |
| CN111808942A (en) * | 2020-06-18 | 2020-10-23 | 中国人民解放军空军军医大学 | Application of primer designed according to LAMP2-H260fs mutant gene in preparation of Danon disease diagnostic kit |
| CN111808942B (en) * | 2020-06-18 | 2022-08-30 | 中国人民解放军空军军医大学 | Application of primer designed according to LAMP2-H260fs mutant gene in preparation of Danon disease diagnostic kit |
| 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 |
| CN115109136A (en) * | 2022-06-23 | 2022-09-27 | 南昌大学第二附属医院 | Myh7 gene mutation, detection kit and method for constructing animal model thereof |
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