CN106282351A - X chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer and application thereof - Google Patents
X chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer and application thereof Download PDFInfo
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- CN106282351A CN106282351A CN201610705064.0A CN201610705064A CN106282351A CN 106282351 A CN106282351 A CN 106282351A CN 201610705064 A CN201610705064 A CN 201610705064A CN 106282351 A CN106282351 A CN 106282351A
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Abstract
X chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer and application thereof, described primer is as shown in SEQ ID NO.1～44.Detection primer of the present invention and test kit thereof can be used for detecting the mutant of X chain hypophosphatemic rickets Disease-causing gene PHEX gene, carrier and the patient of Disease-causing gene can be found quickly and easily, also apply be applicable to prenatal diagnosis, avoid the birth of X chain hypophosphatemic rickets fetus, reduce the sickness rate of the chain hypophosphatemic rickets of X.
Description
Technical field
The invention belongs to biological technical field, be specifically related to X-chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer
And application.
Background technology
Hypophosphatemic rickets is the metabolic osteopathy that child is common, is owing to serum phosphorus levels is low and activated vitamin D is raw
Become not enough and cause mineralization of skeleton one group of disease bad, halisteretic.Wherein the chain hypophosphatemic rickets of X-is modal
Heritability hypophosphatemic rickets, sickness rate is about 1:20000, accounts for more than the 80% of heritability hypophosphatemic rickets, its
Clinical characters mainly includes growth retardation, of short and small stature, hypophosphatemia, skeleton calcification defect, closely song reabsorption
Phosphorus impairment and 1,25-(OH) 2-D3 generate deficiency etc..Nineteen ninety-five international cooperating research group determines XLH Disease-causing gene and is in
PHEX gene on X chromosome, for the phosphorus regulator gene with endopeptidase homology being present on X chromosome.
The treatment of the chain hypophosphatemic rickets of X-is with Oral phosphate preparation and calcitriol at present.Many clinical researches
Confirm, carry out treating the raising of the prognosis to patient and quality of life after early diagnosis in time most important, trouble can be alleviated
Person's skeleton deformity, rises hyperphospheremia, increases manhood height, maintains normal growth rate so that lower limb malformation is progressively corrected, have
Help the mineralising of tooth, avoid hypercalcemia, higher urinary calcium etc. caused by secondary hyperparathyroidism, poisoning by vitamin D simultaneously
Complication.But the diverse clinical manifestations of X-chain hypophosphatemic rickets patient, and the order of severity is widely different, is presently mainly
Diagnose by clinical manifestation, lab testing and family history, easily cause mistaken diagnosis and delay treatment.Therefore, from molecular level to trouble
Youngster's PHEX gene detects, and early treatment and prognosis to infant play an important role.Simultaneously by carrier and the product of patient
Front diagnosis can avoid the birth of X-chain hypophosphatemic rickets fetus, and to improving the health of the people, alleviating burden on society has important
Meaning.
Summary of the invention
Solve the technical problem that: the present invention provides a kind of and uses DNA sequencing technology for detection to cause X-chain hypophosphatemic Gou
Detection primer that whether the PHEX gene of crooked sick morbidity suddenlys change and application thereof.
Technical scheme: X-chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer, such as SEQ ID NO.1～44 institute
Show.
Primer shown in SEQ ID NO.1～44 is at preparation detection X-chain hypophosphatemic rickets Disease-causing gene test kit
In application.
A kind of detection X-chain hypophosphatemic rickets Disease-causing gene mutation detection kit, including such as SEQ ID NO.1
～the primer shown in 44.
Test kit also includes PCR amplifing reagent, PCR primer purified reagent and DNA sequencing reagent.Described PCR expands examination
Agent is dNT and Taq archaeal dna polymerase.Described PCR primer purified reagent is sodium acetate and ethanol solution.Described DNA sequencing reagent
For
BigDye mix, EDTA solution, ethanol solution and HIDI solution.
Beneficial effect: detection primer of the present invention and test kit thereof can be used for detecting the chain hypophosphatemic rickets of X-
The mutant of Disease-causing gene PHEX gene, can find carrier and the patient of Disease-causing gene quickly and easily, it is possible to application
In prenatal diagnosis, it is to avoid the birth of X-chain hypophosphatemic rickets fetus, reduce the morbidity of the chain hypophosphatemic rickets of X-
Rate.
Accompanying drawing explanation
22 exons of Fig. 1 PHEX gene and flanking sequence pcr amplification product agarose gel electrophoresis figure.
Fig. 2 is 4 example PHEX abrupt climatic change positive findings figures of detection.Have detected the 4 chain hypophosphatemic of example X by the present invention
Rickets patient, it was found that 4 example PHEX abrupt climatic change positive patients, Fig. 2 shows this 4 example PHEX abrupt climatic change positive findings, and A is
C.1157G > A sudden change, c.842T B is > A sudden change, c.1824_1825insGAAA C for suddenly change, and c.174_174delA D is.
Detailed description of the invention
Embodiment 1:
This detection kit mainly includes following component:
1, PHEX gene the 1st to the 22nd exon 1 PCR amplification is right with sequencing primer 22, is shown in Table 1；
2, standard PCR amplification reagent, such as dNTP, Taq archaeal dna polymerase etc.；
3, Standard PCR product purification reagent, such as sodium acetate, ethanol solution etc.；
4, conventional DNA sequencing reagent, such as BigDye mix, EDTA solution, ethanol solution, HIDI solution etc..
22 exon pcr amplification primer things of table 1 PHEX gene
The use step of this test kit includes:
1, the genomic DNA of sample is extracted；
2, PCR amplification:
PHEX gene order in the present invention derives from human genome DNA data base (NCBI, Genebank NG_
007563.2), according to 22 exons and the flanking sequence of PHEX gene, application primer-design software Primer5 is respectively 22
Exon is designed primer.
PCR reacts amplification system
PCR reaction condition:
3, PCR primer is identified
Prepare 1.0% agarose gel, PCR primer 2 μ L.In constant voltage 120V, electrophoresis 30 minutes, after EB dyeing, in ultraviolet
Observe under lamp.
4, PCR primer purification
All PCR primer after identifying are purified according to following operating procedure:
(1) add 0.5 times of volume sodium acetate (pH=5.2), 3 times of volume dehydrated alcohol, place 30 minutes for 4 degree, 12000rpm
Centrifugal 30min, abandons supernatant；
(2) adding 75% ethanol 400 μ L, 12000rpm is centrifuged 20min, abandons supernatant, and room temperature dries 5-10 minute；
(3) add 20 μ L ddH2O dissolves；After NANO drop is quantitative, it is diluted to the concentration of 5-10ng/ μ L.
5, order-checking PCR reaction
PCR reacts amplification system:
PCR reaction condition:
6, order-checking product purification
The most often pipe is sequentially added into 5 μ L 125mMEDTA and 60 μ L dehydrated alcohol, builds, and shakes 4 times, and room temperature places 15 points
Clock；
(2) 12000rpm, 4 degree of centrifugal 30min；
(3) the supernatant after careful sucking-off is centrifugal, adds 70% ethanol that 60 μ L configure in advance, shakes 3s, 12000rpm 4
The centrifugal 15min of degree；
(4) repeat previous step once after, open lid, room temperature places 15min, makes ethanol volatilization clean.
7, ABI 3130 gene sequencer order-checking
Add 10 μ L Hi-Di Formamide dissolve previous step purification DNA, degeneration in PCR instrument: 95 DEG C of 5min,
Put into 20 DEG C of quick-freezing 1min at once, whole liquid are transferred to machine on 96 orifice plates.
8, experimental result: sequencing result is compared with standard sequence.
Test kit of the present invention is for detecting the sudden change of X-chain hypophosphatemic rickets Disease-causing gene PHEX gene
Body, can find carrier and the patient of Disease-causing gene, it is possible to be applied to prenatal diagnosis, it is to avoid X-is chain low quickly and easily
The birth of serium inorganic phosphorus rickets fetus, reduces the sickness rate of the chain hypophosphatemic rickets of X-.
The above, only best mode for carrying out the invention, any those familiar with the art is in the present invention
In the technical scope disclosed, the simple change of the technical scheme that can become apparent to or equivalence are replaced and are each fallen within the present invention's
Protection domain.
SEQUENCE LISTING
<110>Yang Haijun
<120>X-chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer and application thereof
<130>
<160> 44
<170> PatentIn version 3.3
<210> 1
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<212> DNA
<213>artificial sequence
<400> 1
gccttggatg tcaacgcct 19
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<400> 2
cagccctata cctgtgttat g 21
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<212> DNA
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<400> 3
ttggaatacc gtgtcaacac tg 22
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<212> DNA
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<400> 4
gcatttcgta cttggtaaac ctc 23
<210> 5
<211> 23
<212> DNA
<213>artificial sequence
<400> 5
ggcttggaaa ctggttgata tgg 23
<210> 6
<211> 22
<212> DNA
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<400> 6
gagaagtcat gcttcaaatc cc 22
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aggagtaccc tggataagag a 21
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tgatacccaa agaatccaac tca 23
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<211> 21
<212> DNA
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<400> 9
tctgtgatta tgctcatccc a 21
<210> 10
<211> 22
<212> DNA
<213>artificial sequence
<400> 10
atggtaatgg tctacattct gc 22
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<211> 20
<212> DNA
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<400> 11
atggctggga tgcagacgat 20
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<212> DNA
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gtcttcctgc attgggaata tg 22
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gcctggtatt gcataatgcc t 21
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tattagttct accttgggcc c 21
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ggggaccaca ccaaagcctt 20
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ataaccaaga ctgagagcag g 21
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caataggtct ggatggcaat g 21
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cacaaaggac accgggatt 19
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tatgagtaag aggtccctcg 20
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agagcttggg ctacaaact 19
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gcctctacta tctgatgcat a 21
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ggctgacatt agcctgttga ata 23
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agaacccctt acttaccatg t 21
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gcagttcgaa aaattcaggt 20
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gatgaagggc gcatttctac a 21
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ggctcatatc tagccaagga at 22
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gctccttcct atgctgaagt a 21
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gagttggcaa aacatgacac ag 22
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gccccaaact gagggaataa t 21
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<400> 32
gccacctatg tgtaagatgg c 21
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<400> 33
agggcactaa ggttcatatg t 21
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<400> 35
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<400> 36
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<400> 38
aatggggaga cacacttcta ttt 23
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<400> 39
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<210> 40
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<400> 40
cacagggctg ctaacccatt 20
<210> 41
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<400> 41
ccttctactc tggggatcag 20
<210> 42
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<400> 42
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<400> 43
gggctttagt tgtctccctg t 21
<210> 44
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<212> DNA
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ggcctaaagc aatgggcgat 20
Claims (7)
1.X-chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer, it is characterised in that such as SEQ ID NO.1～44 institute
Show.
Primer shown in 2.SEQ ID NO.1～44 is in preparation detection X-chain hypophosphatemic rickets Disease-causing gene test kit
Application.
3. a detection X-chain hypophosphatemic rickets Disease-causing gene mutation detection kit, it is characterised in that include such as SEQ
Primer shown in ID NO.1～44.
Test kit the most according to claim 3, it is characterised in that also include PCR amplifing reagent, PCR primer purified reagent and
DNA sequencing reagent.
Test kit the most according to claim 4, it is characterised in that described PCR amplifing reagent is dNT and Taq DNA polymerization
Enzyme.
Test kit the most according to claim 4, it is characterised in that described PCR primer purified reagent be sodium acetate and ethanol molten
Liquid.
Test kit the most according to claim 4, it is characterised in that described DNA sequencing reagent is that BigDye mix, EDTA are molten
Liquid, ethanol solution and HIDI solution.
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| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN201610705064.0A CN106282351A (en) | 2016-08-22 | 2016-08-22 | X chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer and application thereof |
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| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN201610705064.0A CN106282351A (en) | 2016-08-22 | 2016-08-22 | X chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer and application thereof |
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| CN106282351A true CN106282351A (en) | 2017-01-04 |
Family
ID=57614942
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| CN201610705064.0A Pending CN106282351A (en) | 2016-08-22 | 2016-08-22 | X chain hypophosphatemic rickets Disease-causing gene abrupt climatic change primer and application thereof |
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Cited By (7)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN111363782A (en) * | 2019-12-25 | 2020-07-03 | 江苏省肿瘤医院 | Kit for identifying enzymatic activity of X-linked rickets PHEX gene wild type and mutant proteosome |
| CN112522277A (en) * | 2020-12-21 | 2021-03-19 | 黄志玲 | MSH6 gene with mutation at 12759 site and application thereof |
| CN112553320A (en) * | 2020-12-21 | 2021-03-26 | 黄志玲 | MSH6 gene with site 12907 mutated and application thereof |
| CN112608992A (en) * | 2020-12-21 | 2021-04-06 | 黄志玲 | MSH6 mutant gene and application thereof |
| CN112626195A (en) * | 2020-12-21 | 2021-04-09 | 黄志玲 | Novel rickets pathogenic gene with low blood phosphorus and application thereof |
| CN113549637A (en) * | 2021-07-21 | 2021-10-26 | 山东第一医科大学附属省立医院(山东省立医院) | Mouse PHEX gene SNP locus and application thereof |
| CN113549638A (en) * | 2021-07-21 | 2021-10-26 | 山东第一医科大学附属省立医院(山东省立医院) | Method for constructing mouse model of X-linked rickets with low blood phosphorus |
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Cited By (12)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN111363782A (en) * | 2019-12-25 | 2020-07-03 | 江苏省肿瘤医院 | Kit for identifying enzymatic activity of X-linked rickets PHEX gene wild type and mutant proteosome |
| CN112522277A (en) * | 2020-12-21 | 2021-03-19 | 黄志玲 | MSH6 gene with mutation at 12759 site and application thereof |
| CN112553320A (en) * | 2020-12-21 | 2021-03-26 | 黄志玲 | MSH6 gene with site 12907 mutated and application thereof |
| CN112608992A (en) * | 2020-12-21 | 2021-04-06 | 黄志玲 | MSH6 mutant gene and application thereof |
| CN112626195A (en) * | 2020-12-21 | 2021-04-09 | 黄志玲 | Novel rickets pathogenic gene with low blood phosphorus and application thereof |
| CN112553320B (en) * | 2020-12-21 | 2022-05-06 | 黄志玲 | MSH6 gene with site 12907 mutated and application thereof |
| CN112608992B (en) * | 2020-12-21 | 2022-05-10 | 黄志玲 | MSH6 mutant gene and application thereof |
| CN112522277B (en) * | 2020-12-21 | 2022-05-10 | 黄志玲 | MSH6 gene with mutation at 12759 site and application thereof |
| CN112626195B (en) * | 2020-12-21 | 2022-05-10 | 黄志玲 | Novel rickets pathogenic gene with low blood phosphorus and application thereof |
| CN113549637A (en) * | 2021-07-21 | 2021-10-26 | 山东第一医科大学附属省立医院(山东省立医院) | Mouse PHEX gene SNP locus and application thereof |
| CN113549638A (en) * | 2021-07-21 | 2021-10-26 | 山东第一医科大学附属省立医院(山东省立医院) | Method for constructing mouse model of X-linked rickets with low blood phosphorus |
| CN113549637B (en) * | 2021-07-21 | 2023-05-23 | 山东第一医科大学附属省立医院(山东省立医院) | SNP locus of mouse PHEX gene and application thereof |
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