CN106222253A - The detection kit of age-related macular degeneration choroid polypoid vascular lesion disease - Google Patents
The detection kit of age-related macular degeneration choroid polypoid vascular lesion disease Download PDFInfo
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- CN106222253A CN106222253A CN201610589682.3A CN201610589682A CN106222253A CN 106222253 A CN106222253 A CN 106222253A CN 201610589682 A CN201610589682 A CN 201610589682A CN 106222253 A CN106222253 A CN 106222253A
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Abstract
The invention discloses the test kit for detecting choroid polypoid vascular lesion disease, it includes the optional reagent for detecting FGD6 gene rs77466370 Mutation.The present invention detects the test kit of choroid polypoid vascular lesion disease, can be used for monitoring and detecting in early days PCV high-risk group, implements early prevention and treatment, reduce its inpairment of vision.
Description
Technical field
The present invention relates to a kind of test kit detecting age-related macular degeneration choroid polypoid vascular lesion disease, specifically
Say the reagent detected to age-related macular degeneration choroid polypoid vascular lesion disease relevant FGD6 gene rs77466370 site
Box.
Background technology
Polypoidal choroidal vasculopathy in Chinese patients (polypoidal choroidal vasculopathy, PCV), also known as venation
Film polypoid angiopathy, be a kind of choroidal artery net with hooks and peripheral vessel polypoid expansion stove special for typical case
The retinopathy levied.The fundus Oculi Manifestations of PCV is similar to exudative age-related macular degeneration, but its Indocyanine-Green
(indocyanine green angiography, ICGA) performance and exudative type age-related macular degeneration (age-
Related macular degeneration, AMD) there is the biggest difference.
PCV is proposed in nineteen eighty-two by Yannuzzi the earliest in a macula lutea meeting, and describes it as special hemorrhage
Property and/or slurry retina pigment epithelium and neuroepithelium depart from pathological changes.1984 AAO discuss on,
Kleiner etc. report 7 examples hemorrhagic, slurry retina pigment epithelium and neuroepithelium in various degree in rear tunica uvea
Depart from the patient of pathological changes, and describe this disease with " rear tunica uvea hemorrhagic-syndrome ".Within 1985, Stern is at 3 example Black women's bodies
On observe similar situation.Yannuzzi in nineteen ninety by this sick named idiopathic polypoidal choroidal vasculopathy in Chinese patients
(idiopathic polypoidal choroidal vasculopathy, IPCV).Yannuzzi is by idiopathic one word subsequently
Removing from the name of this disease, by this sick named PCV, [pathogenesis of current PCV is the most indefinite, but its histopathology grinds
Study carefully and contribute to illustrating its pathogenesis.Initially the pathological changes of PCV is construed to " hemangioma " by people, but some scholars find it subsequently
Early lesion is that a large amount of vascular channel changes at present to the genetics research of PCV indefinite, but existing report shows some base
Necessarily contact because having with the reaction etc. of its clinical manifestation, treatment.
There is no highly effective Therapeutic Method for PCV at present, the method for alleviation includes that PDT and intravitreal resist
Angiogenesis drug and conjoint therapy, but relevant diseases can not be reversed.
Summary of the invention
It is an object of the invention to provide the test kit of detection age-related macular degeneration choroid polypoid vascular lesion disease,
This test kit derives from the sample of test individual whether there is FGD6 gene rs77466370 Mutation by detection, thus
Monitor or diagnose the generation of age-related macular degeneration choroid polypoid vascular lesion disease in early days, and then for clinical diagnosis with control
Treat and reference is provided.
The present invention is for detecting the test kit of choroid polypoid vascular lesion disease, and it includes optional for detecting
The reagent of FGD6 gene rs77466370 Mutation.
Preferably, described FGD6 gene rs77466370 Mutation is C → T variation.
Preferably, described test kit also includes detecting ARMS2/HTRA1 gene rs10490924 site, CFH gene
Any one in rs800292 site, CFH gene rs1065489 site or the reagent of any number of Mutation.
Preferably, the variation in described ARMS2/HTRA1 gene rs10490924 site is G → T variation, described CFH gene
The variation in rs800292 site is G → A variation, and the variation in described CFH gene rs1065489 site is G → T variation.
Preferably, described reagent is that order-checking reagent, digestion with restriction enzyme method reagent, restriction fragment are long
Degree polymorphic method reagent, Snapshot reagent or gene chip reagent.
The most described Snapshot reagent includes snapshot primer.
The most also include the reagent of the optional genetic fragment comprising FGD6 gene rs77466370 site for amplification；
And/or optional comprise ARMS2/HTRA1 gene rs10490924 site for amplification genetic fragment, comprise CFH gene
The genetic fragment in rs800292 site, comprise in the genetic fragment in CFH gene rs1065489 site any one or the most
The reagent of individual genetic fragment.
The reagent of the most described amplification includes amplimer.
Present invention also offers the reagent of detection FGD6 gene rs77466370 Mutation at preparation detection choroid breath
The purposes of the reagent of meat-like vascular lesion disease.
The most described FGD6 gene rs77466370 Mutation is C → T variation.
Preferably, described reagent also includes detecting ARMS2/HTRA1 gene rs10490924 site, CFH gene
Any one in rs800292 site, CFH gene rs1065489 site or the reagent of any number of Mutation.
Preferably, the variation in described ARMS2/HTRA1 gene rs10490924 site is G → T variation, described CFH gene
The variation in rs800292 site is G → A variation, and the variation in described CFH gene rs1065489 site is G → T variation.
Preferably described reagent is that order-checking reagent, digestion with restriction enzyme method reagent, restriction fragment are long
Degree polymorphic method reagent, Snapshot reagent or gene chip reagent.
The most described Snapshot reagent includes Snapshot primer.
The most also include the reagent of the optional genetic fragment comprising FGD6 gene rs77466370 site for amplification；
And/or optional comprise ARMS2/HTRA1 gene rs10490924 site for amplification genetic fragment, comprise CFH gene
The genetic fragment in rs800292 site, comprise in the genetic fragment in CFH gene rs1065489 site any one or the most
The reagent of individual genetic fragment.
The reagent of the most described amplification includes amplimer.
The Snapshot primer of each variant sites and amplimer are as shown in the table:
The present invention detects the test kit of choroid polypoid vascular lesion disease, can be used for monitoring and detect PCV height in early days
Danger crowd, implements early prevention and treatment, reduces its inpairment of vision.Test kit of the present invention is with multiple relevant to PCV in CFH gene
SNP mutation (ARMS2/HTRA1 gene rs10490924 site, CFH gene rs800292 site, the CFH gene of connection
Rs1065489 site) it is that target carries out cooperation detection, more can improve the accuracy of detection.
The detailed description of the invention of form by the following examples, makees the most specifically the foregoing of the present invention
Bright.But this should not being interpreted as, the scope of the above-mentioned theme of the present invention is only limitted to below example.All above-mentioned interior based on the present invention
Hold the technology realized and belong to the scope of the present invention.
Detailed description of the invention
Embodiment 1 FGD6 gene rs77466370 site, ARMS2/HTRA1 gene rs10490924 site, CFH gene
Rs800292 site, CFH gene rs1065489 site and age-related macular degeneration choroid polypoid vascular lesion
The dependency of (polypoidal choroidal vasculopathy, PCV)
One, sample collection and the extraction of genomic DNA
The sample that samples sources is collected in People's Hospital, Sichuan Prov..
According to following method, prepare genomic DNA with human peripheral.In the presence of anticoagulant EDTA, the 5ml people that will collect
Peripheral blood removes serum in 30 minutes in 3000rpm centrifugation.Being subsequently added into 0.2%NaCl solution, making cumulative volume is 50ml.Gently
Light vibration solution 5-6 time, and make it be positioned over 15 minutes on ice.Hereafter, 3000rpm centrifugation 30 minutes, collect whereby
Precipitate.By the NaCl solution of 0.2%, wash the most again.In the precipitate so obtained, add
Enter 10mM Tris-HCl (pH8.0) and 10mM EDTA (4m1), with this precipitate that suspends.Albumen by 10%SDS, 25mg/ml
The RNaseA of enzyme K and 10mg/ml adds in suspension, and its addition is respectively 4ml, 16 μ l and 20 μ l, and then turn upside down suspension
It is gently mixed.Then, at 37 DEG C of Overnight incubation suspensions.After overnight, adding 4ml phenol/Tris solution, the mixture that turns upside down mixes
The mixture of gained.Within 10 minutes, water layer is removed with 3000rpm centrifugation.By water layer and 4ml phenol/chloroformic solution mixing, then
Inverse mixed merging, with 3000rpm centrifugation 10 minutes, removes water layer.Finally, with chloroform extraction twice, to obtain aqueous phase, toward it
In add l/10,3M NaAC (pH5.2), the cold dehydrated alcohol of doubling dose, make DNA precipitate.Washing with alcohol with 70% is to obtain base
Because of group DNA.Finally being dissolved in TE by the genomic DNA of gained, then quantitative determination mixture is at the absorbance of 260nm, DNA
Working solution concentration correction, to 50ng/ μ l, puts-20 DEG C of Refrigerator stores.
Two, FGD6 gene rs77466370 site, ARMS2/HTRA1 gene rs10490924 site, CFH gene
Rs800292 site, CFH gene rs1065489 site single nucleotide polymorphism DNA fragmentation PCR amplification and gene type assay
The present invention uses Snapshot genotyping technique to FGD6 gene rs77466370 site, ARMS2/HTRA1 base
Because rs10490924 site, CFH gene rs800292 site, CFH gene rs1065489 site point detect.Use gene
Amplifing reagent and Snapshot primer carry out typing the most by the following method:
Experimental procedure is as follows:
1) DNA fragmentation of the SNP site detected is contained by PCR amplification
PCR expands (20 μ l system):
Reaction condition:
2) Sanpshot typing detection
The first step: PCR primer purification (12 μ l system):
Reaction condition:
1,37 DEG C of enzyme action 1 hour
2,75 DEG C inactivate 15 minutes
3,4 DEG C of preservations
Second step: single base primers extension (5 μ l):
Reaction condition:
3rd step: purification reaction thing:
Reaction system: 0.7 μ l serum alkaline phosphatase/hole
Reaction condition: 37 DEG C 1 hour, 75 DEG C 15 minutes, 4 DEG C of preservations.
4th step: ABI genetic analyzer reading result:
Reaction system: purified product 1 μ l+HD 9 μ l
Reaction condition: 95 DEG C 5 minutes, rapid ice bath cool down
Machine-readable on ABI PRISM 3130XL DNA Sequencer take genotype results.
Three, correlation analysis FGD6 gene rs77466370 site and age-related macular degeneration choroid polypoid vascular lesion
The dependency of (polypoidal choroidal vasculopathy, PCV)
Statistical method: utilize full exon group order-checking Plink software to carry out full exon group sequencing data analysis, use
Taqman, SNapShot, sanger sequencing finds that rs77466370 site is notable with choroid polypoid vascular lesion
Relevant, and be verified at 4 follow-up different crowds, the results are shown in Table 1.Interaction of genes analysis finds, this site and ARMS2/
There is interaction in HTRA1-rs10490924, CFH-rs800292 and CFH-rs1065489, the results are shown in Table 2.
Crowd 1, finds crowd, and exon group checks order, China Chengdu；Crowd 2, checking group, GuangZhou, China and Hong Kong；Crowd
3, China Shantou；Crowd 4, Singapore crowd；Crowd 5, Japanese population
A: discovery group and checking group associating meta-analysis result.
It can be seen that the variation of FGD6 gene SNP rs77466370 is relevant to choroid polypoid angiopathy, Ke Yitong
Cross detection and be fond of whether sample exists the variation of FGD6 gene SNP rs77466370 to predict that it suffers from choroid polypoid blood vessel
Sick risk.
Interaction is there is in table 2 FGD6 rs77466370 site with 3 sites on ARMS2/HTRA1 and CFH gene
Experimental result illustrates, the variation of FGD6 gene SNP rs77466370 and ARMS2/HTRA1 gene rs10490924
There is interaction in site, CFH gene rs800292 site, the variation in CFH gene rs1065489 site, detects FGD6 gene
While the variation of SNP rs77466370, detect ARMS2/HTRA1 gene rs10490924 site, CFH gene rs800292
One or more in site, CFH gene rs1065489 site, can improve the accuracy of detection.
To sum up, the variation of FGD6 gene SNP rs77466370 is relevant to choroid polypoid angiopathy, is treated by detection
See whether sample exists the variation of FGD6 gene SNP rs77466370 to predict that it suffers from the risk of choroid polypoid angiopathy,
ARMS2/HTRA1 gene rs10490924 site, CFH is detected while the variation of detection FGD6 gene SNP rs77466370
One or more in gene rs800292 site, CFH gene rs1065489 site, can improve the accuracy of detection.
Embodiment 2 detection kit of the present invention
Whole components, content and using method in test kit of the present invention are as follows:
PCR amplifing reagent (50 person-portion):
Sanpshot typing detection reagent (50 person-portion)
Standard DNA sample:
Using method:
1) DNA extraction
Take patient whole blood's (EDTA anticoagulant) 2ml, extract its genomic DNA.
2) the DNA fragmentation PCR expanded containing the SNP site detected by PCR expands (20 μ l system):
Reaction condition:
PCR primer detects:
Agarose gel electrophoresis with 2% detects PCR primer, observes the effect of PCR reaction, and determines that it exists as template
The amount added in subsequent reactions.
3) Sanpshot typing detection
The first step: PCR primer purification (12 μ l system):
Reaction condition:
1,37 DEG C of enzyme action 1 hour
2,75 DEG C inactivate 15 minutes
3,4 DEG C of preservations
Second step: single base primers extension (5 μ l):
Reaction condition:
3rd step: purification reaction thing:
Reaction system: 0.7 μ l serum alkaline phosphatase/hole
Reaction condition: 37 DEG C 1 hour, 75 DEG C 15 minutes, 4 DEG C of preservations.
4th step: ABI genetic analyzer reading result:
Reaction system: purified product 1 μ l+HD 9 μ l
Reaction condition: 95 DEG C 5 minutes, rapid ice bath cool down
Machine-readable on ABI PRISM 3130XL DNA Sequencer take genotype results.
This test kit is used for: 1, the early diagnosis of agedness yellow spot degenerative disease resistance crowd choroid polypoid vascular lesion
With typing reference；2, gene test and the probability of agedness yellow spot degenerative disease resistance crowd choroid polypoid vascular lesion is commented
Estimate.
1) detection method of the present invention can be used for analyze FGD6 gene SNP rs77466370 variation while detect
ARMS2/HTRA1 gene rs10490924 site, CFH gene rs800292 site, CFH gene rs1065489 site polymorphic
Property, apply complementary diagnosis and individuality at agedness yellow spot degenerative disease resistance crowd's choroid polypoid vascular lesion yellow for old age
In the assessment of speckle degenerative disease choroid polypoid vascular lesion resistance.
2) agedness yellow spot degenerative disease resistance crowd's choroid polypoid vascular lesion resistance base that the present invention illustrates is utilized
The polymorphism in cause/site, as one of biomarker, can be used as the screening of the molecular target of drug design, to help to find
There is the bioactive molecule regulating these gene expressions, promote new drug development.
3) present invention sets up the nucleotide sequence of detection SNP site polymorphism and agedness yellow spot degenerative disease resistance crowd's arteries and veins
Network film polypoid vascular lesion related gene/site, can high sensitivity, be specifically applied to age-related macular degeneration gene diagnosis
Test kit.
To sum up, the present invention, by detecting the variation in FGD6 gene rs77466370SNP site, assesses sample to be checked and occurs old
The probability of year macular degeneration disease resistance crowd's choroid polypoid vascular lesion, highly sensitive, it is only necessary to a small amount of DNA sample
Just be enough to measure the variation in described site, reach the purpose of early screening, examine while detection FGD6 gene rs77466370
Survey RMS2/HTRA1 gene rs1 0490924 site, CFH gene rs800292 site, CFH gene rs1065489 site, permissible
Improve accuracy further.
Claims (10)
1. for detecting the test kit of choroid polypoid vascular lesion disease, it is characterised in that: it includes optional for examining
Survey the reagent of FGD6 gene rs77466370 Mutation.
2. the test kit described in claim 1, it is characterised in that: described FGD6 gene rs77466370 Mutation is that C → T becomes
Different.
Test kit the most according to claim 1 and 2, it is characterised in that: described test kit also includes detecting ARMS2/HTRA1
In gene rs10490924 site, CFH gene rs800292 site, CFH gene rs1065489 site any one or appoint
Anticipate the reagent of multiple Mutation；
Preferably, the variation in described ARMS2/HTRA1 gene rs10490924 site is G → T variation, described CFH gene
The variation in rs800292 site is G → A variation, and the variation in described CFH gene rs1065489 site is G → T variation.
4. the test kit described in claims 1 to 3 any one, it is characterised in that: described reagent is order-checking reagent, restriction
Property endonuclease digestion method reagent, restriction fragment length polymorphism method reagent, Snapshot reagent or gene core
Sheet reagent；
Preferably, described Snapshot reagent includes Snapshot primer.
5. according to the test kit described in Claims 1 to 4 any one, it is characterised in that: also include optional for expanding bag
Reagent containing the genetic fragment in FGD6 gene rs77466370 site；And/or optional comprise ARMS2/HTRA1 base for amplification
Because of rs10490924 site genetic fragment, the genetic fragment comprising CFH gene rs800292 site, comprise CFH gene
Any one or the reagent of any number of genetic fragment in the genetic fragment in rs1065489 site；Preferably, described amplification
Reagent includes such as amplimer.
6. the reagent of detection FGD6 gene rs77466370 Mutation is in preparation detection choroid polypoid vascular lesion disease
The purposes of reagent.
Purposes the most according to claim 6, it is characterised in that: described FGD6 gene rs77466370 Mutation is C → T
Variation.
8. according to the purposes described in claim 6 or 7, it is characterised in that: described reagent also includes detecting ARMS2/HTRA1 gene
In rs10490924 site, CFH gene rs800292 site, CFH gene rs1065489 site any one or the most
The reagent of individual Mutation；Preferably, the variation in described ARMS2/HTRA1 gene rs10490924 site is G → T variation, institute
The variation stating CFH gene rs800292 site is G → A variation, and the variation in described CFH gene rs1065489 site is that G → T becomes
Different.
9. according to the purposes described in claim 6～8 any one, it is characterised in that: described reagent is order-checking reagent, limit
Property endonuclease digestion method reagent processed, restriction fragment length polymorphism method reagent, Snapshot reagent or gene
Chip reagent；
Preferably, described Snapshot reagent includes Snapshot primer.
10. according to the purposes described in claim 6～9 any one, it is characterised in that: also include optional comprising for amplification
The reagent of the genetic fragment in FGD6 gene rs77466370 site；And/or optional comprise ARMS2/HTRA1 gene for amplification
The genetic fragment in rs10490924 site, the genetic fragment comprising CFH gene rs800292 site, comprise CFH gene
Any one or the reagent of any number of genetic fragment in the genetic fragment in rs1065489 site；Preferably, described amplification
Reagent includes amplimer.
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| CN2016101641844 | 2016-03-21 | ||
| CN201610164184 | 2016-03-21 |
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Citations (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN101550451A (en) * | 2008-03-04 | 2009-10-07 | 四川省医学科学院（四川省人民医院） | Reagent kit for detecting agedness yellow spot degenerative disease |
| CN101857899A (en) * | 2009-04-03 | 2010-10-13 | 四川省医学科学院（四川省人民医院） | Kit for detecting senile macular degeneration disease |
-
2016
- 2016-07-25 CN CN201610589682.3A patent/CN106222253B/en active Active
Patent Citations (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN101550451A (en) * | 2008-03-04 | 2009-10-07 | 四川省医学科学院（四川省人民医院） | Reagent kit for detecting agedness yellow spot degenerative disease |
| CN101857899A (en) * | 2009-04-03 | 2010-10-13 | 四川省医学科学院（四川省人民医院） | Kit for detecting senile macular degeneration disease |
Non-Patent Citations (3)
| Title |
|---|
| DONG HO PARK等: "Association of ARMS2/HTRA1 variants with polypoidal choroidal vasculopathy phenotype in a Korean population", 《JPN J OPHTHALMOL》 * |
| L HUANG等: "Gene-gene interaction of CFH, ARMS2, and ARMS2/HTRA1 on the risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese population", 《EYE(LOND)》 * |
| NCBI: "ss242582396（rs77466370）", 《NCBI》 * |
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