CN107419028A - A kind of kit and its application for being used to detect changeability erythema keratosis - Google Patents
A kind of kit and its application for being used to detect changeability erythema keratosis Download PDFInfo
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- CN107419028A CN107419028A CN201710816094.3A CN201710816094A CN107419028A CN 107419028 A CN107419028 A CN 107419028A CN 201710816094 A CN201710816094 A CN 201710816094A CN 107419028 A CN107419028 A CN 107419028A
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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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Abstract
The invention discloses a kind of kit and its application for being used to detect changeability erythema keratosis.The present invention is by analyzing a GJB3 and GJB4 gene discovery with 3 changeability erythema keratosis (EKV) patient's familys：C.34G 3 patients have found 2 missense mutation points in Disease-causing gene GJB3>A and c.474G>A, there are in other 9 members of family 4 to carry wherein 1 mutation.Illustrating that the polymorphism of GJB3 genes the 34th and the 474th is pathogenic related to EKV, this compound heterozygous mutations is to report first both at home and abroad, and wherein c.474G>A sites are to report first both at home and abroad.Present invention discover that c.34G>A and c.474G>A sites can be used for diagnosis or auxiliary diagnosis changeability erythema keratosis, assesses the following ill possibility of the member not yet to be fallen ill in family, gene diagnosis foundation is provided for the normal marriage and child-bearing health offspring of family member.
Description
Technical field
The invention belongs to biological technical field, and in particular to it is a kind of be used for detect changeability erythema keratosis kit and
It is applied.
Background technology
Changeability erythema keratosis (Erythrokeratodermia Variabilis, EKV) is a kind of rare normal dye
Colour solid dominant inheritance dermatoses, also there are Sporadic cases, the report of autosomal recessive hereditary diseases example, by Mendes da
Costa is described first in nineteen twenty-five.It is now recognized that GJB4, the CJB3 of this disease by coding connection PROTEIN C x30.3, Cx3l, CX43
Caused by gene mutation.
Report 14 kinds of GJB3 gene mutation and 7 kinds of GJB4 gene mutation altogether both at home and abroad up to now, wherein, 7 kinds
The GJB4 all autosomal dominant inheritances of gene mutation, 3 kinds of GJB3 sport autosomal recessive inheritance, remaining GJB3
Mutation is dominant inheritance.Compared with the limitation angling caused by GJB4 gene mutations, GJB3 gene mutations frequently result in extensively
And serious keratosa infringement, the state of an illness are heavier.First Year is fallen ill after this sick most of patients birth, is become with the growth state of an illness at age
In stable, but it cannot be cured all one's life, the state of an illness can also meet the exacerbation such as wound, mechanical friction, anxious state of mind and temperature Change, and it is main
It is characterized as migrating changeable erythema and relatively-stationary keratosa patch.
The content of the invention
It is an object of the present invention to provide the list for detecting GJB3 genes Second Exon the 34th and the 474th
The new application of the material of nucleotide polymorphisms.
The invention provides the mononucleotide polymorphic for detecting GJB3 genes Second Exon the 34th and the 474th
Property material prepare detection or auxiliary detection changeability erythema keratosis product in application.
Present invention also offers the mononucleotide for detecting GJB3 genes Second Exon the 34th and the 474th is more
Application of the material of state property in detecting or aiding in detection changeability erythema keratosis.
In above-mentioned application, the mononucleotide for detecting GJB3 genes Second Exon the 34th and the 474th is more
The material of state property is the primer for expanding the DNA fragmentation containing the GJB3 genes Second Exon the 34th and the 474th
It is right.
In above-mentioned application, the primer pair for it is following 1) or 2)：
1) as the single strand dna group shown in sequence 3 in the single strand dna shown in sequence in sequence table 2 and sequence table
Into primer pair A；
2) the primer pair B being made up of the single strand dna shown in sequence A and the single strand dna shown in sequence B；
The sequence A is to delete sequence 2 or increase or change one or several nucleotides, and with sequence 2 with identical
The nucleotides of function；
The sequence B is to delete sequence 3 or increase or change one or several nucleotides, and with sequence 3 with identical
The nucleotides of function.
It is a further object to provide a kind of kit for detecting or aiding in detection changeability erythema keratosis.
The kit of detection provided by the invention or auxiliary detection changeability erythema keratosis includes being used to detect GJB3 bases
Because of the material of the Second Exon SNP of the 34th and the 474th.
In mentioned reagent box, the mononucleotide for being used to detect GJB3 genes Second Exon the 34th and the 474th
The material of polymorphism is for expanding drawing for the DNA fragments containing GJB3 genes Second Exon the 34th and the 474th
Thing pair.
In mentioned reagent box, the primer pair for it is following 1) or 2)：
1) as the single strand dna group shown in sequence 3 in the single strand dna shown in sequence in sequence table 2 and sequence table
Into primer pair A；
2) the primer pair B being made up of the single strand dna shown in sequence A and the single strand dna shown in sequence B；
The sequence A is to delete sequence 2 or increase or change one or several nucleotides, and with sequence 2 with identical
The nucleotides of function；
The sequence B is to delete sequence 3 or increase or change one or several nucleotides, and with sequence 3 with identical
The nucleotides of function.
In mentioned reagent box, the kit also includes data processing equipment；The data processing equipment has as follows
And the function shown in (a2) (a1)：
(a1) SNP of subject's GJB3 genes Second Exon the 34th and the 474th is detected；
(a2) determine whether subject is changeability erythema angling patient according to testing result：If subject's GJB3 bases
Because of Second Exon, the 34th and the 474th sports base A by bases G, then subject is or candidate is changeability erythema
Angling patient；Otherwise, subject is not or candidate is not changeability erythema angling patient.
In mentioned reagent box, the subject GJB3 genes Second Exon the 34th and the 474th is dashed forward by bases G
It can be that heterozygous mutant occurs can also be GJB3 bases to GJB3 genes Second Exon the 34th and the 474th to be changed into base A
Because of Second Exon, the 34th and the 474th occurs homozygous mutation, or GJB3 genes Second Exon the 34th and
A generation homozygous mutation in 474, heterozygous mutant occurs in another.
In above-mentioned application or kit, the GJB3 genes Second Exon is sequence 1.
Application of the mentioned reagent box in whether diagnosis or auxiliary diagnosis subject are changeability erythema angling patient
Belong to protection scope of the present invention.
The present invention is by analyzing a GJB3 and GJB4 base with 3 changeability erythema keratosis (EKV) patient's familys
Because finding：C.34G 3 patients have found 2 missense mutation points in Disease-causing gene GJB3>A and c.474G>A, family other 9
There are 4 to carry wherein 1 mutation in member.Illustrate the polymorphism and the pathogenic phases of EKV of GJB3 genes the 34th and the 474th
Closing, this compound heterozygous mutations is to report first both at home and abroad, and wherein c.474G>A sites are to report first both at home and abroad.This hair
Bright discovery is c.34G>A and c.474G>A sites can be used for diagnosis or auxiliary diagnosis changeability erythema keratosis, assess in family
The following ill possibility of member not yet fallen ill, normal marriage and child-bearing health offspring for family member provide gene and examined
Disconnected foundation.
Brief description of the drawings
Fig. 1 is standard pedigree chart.
Fig. 2 is that Disease-causing gene GJB3 Second Exons the 34th are A/G heterozygous mutants.
Fig. 3 is the 474th A/G heterozygous mutant of Disease-causing gene GJB3 Second Exons.
Embodiment
Experimental method used in following embodiments is conventional method unless otherwise specified.
Material used, reagent etc., unless otherwise specified, are commercially obtained in following embodiments.
Quantitative test in following embodiments, it is respectively provided with and repeats to test three times, results averaged.
Embodiment 1, the discovery and application in changeability erythema keratosis associated morbidity site
First, research object and result of clinical detection
1st, changeability erythema keratosis sample
(1) sample forms
Changeability erythema keratosis (EKV) family of a non-consanguineous mating is chosen as research object, the family totally 12
Name member, the standard pedigree chart of drafting are as shown in Figure 1.Information about firms is as shown in table 1.
1,12 family member's information of table
| Family is numbered | Age | Sex | Whether it is EKV patient |
| III-3 | 34 | Man | It is no |
| III-11 | 21 | Female | It is no |
| III-10 | 26 | Female | It is no |
| III-6 | 17 | Female | It is no |
| III-9 | 26 | Female | It is no |
| III-4 | 32 | Man | It is no |
| II-1 | 67 | Man | It is no |
| II-4 | 61 | Female | It is no |
| II-7 | 48 | Female | It is no |
| II-5 | 57 | Female | It is |
| II-6 | 52 | Man | It is |
| II-2 | 64 | Female | It is |
(2) result of clinical detection
Through patient's informed consent, 12 family members of selection are carried out a medical examination and dept. of dermatology's training is had a medical check-up.
The medical history of propositus II-5 in EKV patient is as follows：The keratosa patch of whole body bronzing 49 years.3 months after birth
Occur red patch at ankle, be gradually extended to whole body with age growth skin lesion and be relatively fixed, color is gradually deepened.Spot
Even red color visible spot sheet edge around block.The state of an illness stimulates exacerbation to the cold, and the weight summer in winter is light, feels slight itch.
The pathological examination results of propositus II-5 in EKV patient are as follows：Hyperkeratinization, papillomatous hyperplasia, spinous layer fertilizer
Thickness, the infiltration of high dermis blood vessel peripheral lymphocyte.
The situation of having a medical check-up of propositus II-5 in EKV patient is as follows：System physical examination no abnormality seen.
The skin training situation of propositus II-5 in EKV patient is as follows：Four limbs, buttocks, chest and face are visible reddish brown
The keratosa patch of color, it is upper it is attached stick together the scales of skin that peel off, be not easily stripped.Skin lesion is relatively fixed, and in pattern shape, border is completely as knife cuts sample.It is double
Palm and vola is keratosa thickens, tooth, to refer to toenail normal.
The laboratory examination situation of propositus II-5 in EKV patient：Blood urine stool routine, liver kidney function are normal.
Diagnostic result shows：Propositus II-5 is changeability erythema keratosis (EKV) patient, patient separately have the people of brother and sister 2 with
Propositus's medical history, clinical symptoms, sign are similar.Therefore, understood by diagnosis：In 12 members, the people (propositus of EKV patient 3
For II-5), the EKV patient people of brother and sister 3 of the same generation, the people of EKV patient children 1, the people of children 5 of EKV patient brother and sister of the same generation.In family not
See other patients.
2nd, normal sample
Choose the normal individual of the outer affinity-less relation of 100 familys as a control group.
2nd, Disease-causing gene detects
Sanger sequencings are carried out to the Disease-causing gene GJB3 and GJB4 of the DNA sample of 12 family members, are confirmed whether to deposit
In pathogenic mutation, and verify that mutated-genotype whether there is in family with clinical manifestation and isolate.With nothing outside 100 familys
The normal individual of genetic connection is control group, is detected with the presence or absence of this mutation in normal population, and to mutational site and changeability
The relevance of erythema keratosis is further analyzed.Comprise the following steps that：
1st, take for this peripheral blood of sample, DNA is extracted using Qiagen DNA extraction kits.And using all-wave length it is ultraviolet/
Vis scan spectrophotometer DN-2000 (NanoDrop companies, USA) determines DNA concentration.
2nd, the DNA obtained using step 1 is entered performing PCR amplification using the primer in table 2, obtains PCR primer as masterplate. PCR
Amplification system is as shown in table 3, and PCR response procedures are as shown in table 4.
Table 2, primer sequence
Table 3, PCR amplification system (5 μ l)
| Template (μ l) | 1 |
| Primers F i (μ l) | 0.5 |
| Primer Ri (μ l) | 0.5 |
| dNTP 10mM(μl) | 0.5 |
| Taq Buffer(μl) | 2.5 |
| Taq enzyme (μ l) 5U/ μ l | 0.2 |
| Water (μ l) | 20 |
Table 4, PCR reaction conditions
3rd, sequencing and sequence analysis
PCR primer is carried out purifying recovery using PCR primer purifying QIAquick Gel Extraction Kit (raw work B518131) and delivers survey
Sequence.Sequencing chromatogram can use Chromas softwares or SeqMan softwares to open, and carry out sequence alignment analysis with SeqMan softwares.
Family member's abrupt climatic change situation is as shown in table 5.The sequencing results show：In family in member, Disease-causing gene
GJB4 does not have found pathogenic mutation；3 changeability erythema angling patients have found 2 missense mutation in Disease-causing gene GJB3
Point：c.34G>A (Fig. 2) and c.474G>A (Fig. 3).Wherein, c.34G>A and c.474G>A is respectively outside GJB3 genes second
Aobvious son (sequence 1) the 34th and 474, the GJB3 genes Second Exon the 34th of 3 changeability erythema angling patients with
474 occur heterozygous mutant, and base A is sported by bases G.In other 9 members of family, have 4 members (III-11,
III-10III-9 and II-1) only carry c.34G>A and c.474G>C.34G 1 mutation in A, other members do not have found>A
C.474G>A is mutated.C.34G 100 normal healthy people Disease-causing gene GJB3 do not have found yet>A and c.474G>A dashes forward in site
Become.
Table 5, family member's abrupt climatic change situation
C.34G once there were GJB3 genes in foreign countries>The pathogenic dominant inheritance family report of A mutation, but have two in this family
C.34G patient offspring (III-11 and III-9) carries>A, but showed without changeability erythema keratosis, and 3 changeability erythema
C.34G angling patient carries simultaneously>A and c.474G>Two mutation of A, and patient father and mother are not ill, family feature is also
Compound autosomal recessive inheritance.
In actual applications, can be according to GJB3 genes c.34G>A and c.474G>The catastrophe diagnosis or auxiliary in A sites
Help whether diagnosis subject is changeability erythema angling patient：
If subject's GJB3 genes Second Exon the 34th and the 474th sports base A by bases G, tested
Person is or candidate is changeability erythema angling patient；Otherwise, subject is not or candidate is not changeability erythema angling sufferer
Person.
Sequence table
<110>Southwestern affiliated hospital of medical university
<120>A kind of kit and its application for being used to detect changeability erythema keratosis
<160>3
<210>1
<211>1627bp
<212>DNA
<213>Artificial sequence
<220>
<223>
<400>1
gtaggcacgg cccccaccag gcgccatgga ctggaagaca ctccaggccc tactgagcgg 60
tgtgaacaag tactccacag cgttcgggcg catctggctg tccgtggtgt tcgtcttccg 120
ggtgctggta tacgtggtgg ctgcagagcg cgtgtggggg gatgagcaga aggactttga 180
ctgcaacacc aagcagcccg gctgcaccaa cgtctgctac gacaactact tccccatctc 240
caacatccgc ctctgggccc tgcagctcat cttcgtcaca tgcccctcgc tgctggtcat 300
cctgcacgtg gcctaccgtg aggagcggga gcgccggcac cgccagaaac acggggacca 360
gtgcgccaag ctgtacgaca acgcaggcaa gaagcacgga ggcctgtggt ggacctacct 420
gttcagcctc atcttcaagc tcatcattga gttcctcttc ctctacctgc tgcacactct 480
ctggcatggc ttcaatatgc cgcgcctggt gcagtgtgcc aacgtggccc cctgccccaa 540
catcgtggac tgctacattg cccgacctac cgagaagaaa atcttcacct acttcatggt 600
gggcgcctcc gccgtctgca tcgtactcac catctgtgag ctctgctacc tcatctgcca 660
cagggtcctg cgaggcctgc acaaggacaa gcctcgaggg ggttgcagcc cctcgtcctc 720
cgccagccga gcttccacct gccgctgcca ccacaagctg gtggaggctg gggaggtgga 780
tccagaccca ggcaataaca agctgcaggc ttcagcaccc aacctgaccc ccatctgacc 840
acagggcagg ggtggggcaa catgcgggct gccaatggga catgcagggc ggtgtggcag 900
gtggagaggt cctacagggg ctgagtgacc ccactctgag ttcactaagt tatgcaactt 960
tcgttttggc agatattttt tgacactggg aactgggctg tctagccggg tataggtaac 1020
ccacaggccc agtgccagcc ctcaaaggac atagactttg aaacaagcga attaactatc 1080
tacgctgcct gcaaggggcc acttagggca ctgctagcag ggcttcaacc aggaagggat 1140
caacccagga agggatgatc aggagaggct tccctgagga cataatgtgt aagagaggtg 1200
agaagtgctc ccaagcagac acaacagcag cacagaggtc tggaggccac acaaaaagtg 1260
atgctcgccc tgggctagcc tcagcagacc taaggcatct ctactccctc cagaggagcc 1320
gcccagattc ctgcagtgga gaggaggtct tccagcagca gcaggtctgg agggctgaga 1380
atgaacctga ctagaggttc tggagatacc cagaggtccc ccaggtcatc acttggctca 1440
gtggaagccc tctttcccca aatcctactc cctcagcctc aggcagtggt gctcccatct 1500
tcctccccac aactgtgctc aggctggtgc cagcctttca gaccctgctc ccagggactt 1560
gggtggatgc gctgatagaa catcctcaag acagtttcct tgaaatcaat aaatactgtg 1620
ttttata 1627
<210>2
<211>25bp
<212>DNA
<213>Artificial sequence
<220>
<223>
<400>2
aactcagaac actgcctggt acata 25
<210>3
<211>21bp
<212>DNA
<213>Artificial sequence
<220>
<223>
<400>3
gcttgttatt gcctgggtct g 21
Claims (10)
1. the material of the SNP for detecting GJB3 genes Second Exon the 34th and the 474th is preparing inspection
Survey or aid in the application in the product of detection changeability erythema keratosis.
2. for detect GJB3 genes Second Exon the 34th and the 474th SNP material detect or
Application in auxiliary detection changeability erythema keratosis.
3. application according to claim 1 or 2, it is characterised in that：
It is described be used for detect GJB3 genes Second Exon the 34th and the 474th SNP material for for
The primer pair of DNA fragmentation of the amplification containing the GJB3 genes Second Exon the 34th and the 474th.
4. application according to claim 3, it is characterised in that：
The primer pair for it is following 1) or 2)：
1) it is made up of the single strand dna shown in sequence 3 in the single strand dna shown in sequence in sequence table 2 and sequence table
Primer pair A；
2) the primer pair B being made up of the single strand dna shown in sequence A and the single strand dna shown in sequence B；
The sequence A has identical function to be deleted sequence 2 or increasing or change one or several nucleotides with sequence 2
Nucleotides；
The sequence B has identical function to be deleted sequence 3 or increasing or change one or several nucleotides with sequence 3
Nucleotides.
5. a kind of kit for detecting or aiding in detection changeability erythema keratosis, it includes being used to detect outside GJB3 genes second
The material of the SNP of aobvious son the 34th and the 474th.
6. kit according to claim 5, it is characterised in that：It is described to be used to detect GJB3 genes Second Exon the 34th
The material of position and the SNP of the 474th be for expand it is described containing GJB3 genes Second Exon the 34th and
The primer pair of the DNA fragmentation of the 474th.
7. kit according to claim 6, it is characterised in that：
The primer pair for it is following 1) or 2)：
1) it is made up of the single strand dna shown in sequence 3 in the single strand dna shown in sequence in sequence table 2 and sequence table
Primer pair A；
2) the primer pair B being made up of the single strand dna shown in sequence A and the single strand dna shown in sequence B；
The sequence A has identical function to be deleted sequence 2 or increasing or change one or several nucleotides with sequence 2
Nucleotides；
The sequence B has identical function to be deleted sequence 3 or increasing or change one or several nucleotides with sequence 3
Nucleotides.
8. according to any described application in claim 1-4 or according to any described kit in claim 5-7, it is special
Sign is：The kit also includes data processing equipment；The data processing equipment has shown in following (a1) and (a2)
Function：
(a1) SNP of subject's GJB3 genes Second Exon the 34th and the 474th is detected；
(a2) determine whether subject is changeability erythema angling patient according to testing result：If subject GJB3 genes second
Extron the 34th and the 474th sports base A by bases G, then subject is or candidate is changeability erythema keratosis
Patient；Otherwise, subject is not or candidate is not changeability erythema angling patient.
9. existed according to any described kit, its feature in any described application in claim 1-4 or claim 5-8
In：The GJB3 genes Second Exon is sequence 1.
10. whether any described kit is changeability erythema angle in diagnosis or auxiliary diagnosis subject in claim 5-8
Change the application in patient.
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN201710816094.3A CN107419028B (en) | 2017-09-12 | 2017-09-12 | Kit for detecting variable hyperkeratosis rubra and application thereof |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN201710816094.3A CN107419028B (en) | 2017-09-12 | 2017-09-12 | Kit for detecting variable hyperkeratosis rubra and application thereof |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| CN107419028A true CN107419028A (en) | 2017-12-01 |
| CN107419028B CN107419028B (en) | 2021-01-05 |
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ID=60432005
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| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CN201710816094.3A Active CN107419028B (en) | 2017-09-12 | 2017-09-12 | Kit for detecting variable hyperkeratosis rubra and application thereof |
Country Status (1)
| Country | Link |
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| CN (1) | CN107419028B (en) |
Citations (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN102634579A (en) * | 2012-03-28 | 2012-08-15 | 上海艾迪康医学检验所有限公司 | Kit for detecting genic mutation of deafness associated genes GJB3 |
| WO2012158780A2 (en) * | 2011-05-16 | 2012-11-22 | The Regents Of The University Of Michigan | Lung cancer signature |
-
2017
- 2017-09-12 CN CN201710816094.3A patent/CN107419028B/en active Active
Patent Citations (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2012158780A2 (en) * | 2011-05-16 | 2012-11-22 | The Regents Of The University Of Michigan | Lung cancer signature |
| CN102634579A (en) * | 2012-03-28 | 2012-08-15 | 上海艾迪康医学检验所有限公司 | Kit for detecting genic mutation of deafness associated genes GJB3 |
Non-Patent Citations (1)
| Title |
|---|
| GABRIELE RICHARD等: "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis", 《NATURE GENETICS》 * |
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| CN107419028B (en) | 2021-01-05 |
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