CN109097451A - A kind of kit of detection G6PD deficiency disease Disease-causing gene mutation - Google Patents
A kind of kit of detection G6PD deficiency disease Disease-causing gene mutation Download PDFInfo
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- CN109097451A CN109097451A CN201810368318.3A CN201810368318A CN109097451A CN 109097451 A CN109097451 A CN 109097451A CN 201810368318 A CN201810368318 A CN 201810368318A CN 109097451 A CN109097451 A CN 109097451A
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- C—CHEMISTRY; METALLURGY
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- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6858—Allele-specific amplification
Abstract
The invention discloses a kind of kits of detection G6PD deficiency disease Disease-causing gene mutation.The kit specifically include that the 1st to the 13rd exons coding district PCR amplification of G6PD and sequencing primer 11 to, PCR amplification reagent, PCR product purified reagent, DNA sequencing reagent.Kit of the invention is used to detect the mutant of G6PD deficiency disease Disease-causing gene, can quickly and easily find the carrier and patient of Disease-causing gene, can be applied to pre-natal diagnosis, reduces the disease incidence of G6PD deficiency disease.
Description
Technical field
The present invention relates to field of biotechnology, and in particular to the examination whether detection G6PD deficiency disease Disease-causing gene mutates
Agent box.
Background technique
Glucose-6-phosphate dehydrogenase (G6PD) (Glucose-6-phosphatedehy Drogenase, G6PD) deficiency disease is one
The chain incomplete dominant lnheritance disease of the common X of kind.G6PD deficiency disease is in worldwide distribution, but is relatively concentrated in Africa, Mediterranean
The littoral, Middle and the Near East and Southeast Asia, America Black people, Central America and the certain American Indians of South America.China is mainly distributed on the Yellow River stream
Each province on the south domain, it is especially higher with the province such as Guangdong, Guangxi, Guizhou, Yunnan and Sichuan incidence, about 5%~20%, individual areas
Up to 40%.
The characteristics of heredity G6PD deficiency disease is a kind of chain incomplete dominant lnheritance of X, usual dominant inheritance is that parent appoints
As long as the Disease-causing gene of a side is transmitted to children, morbidity all can lead to.Some individuals for carrying dominant inheritance gene can be without clinical table
Existing, i.e., genepenetrance is not 100%, and such case is exactly incomplete dominance.As G6PD deficiency disease, because of chain, the group that belongs to X
Occur nonpenetrance phenomenon in body, therefore claims the chain incomplete dominant lnheritance of X.
G6PD deficiency disease male is significantly more than women, is because male only has an X chromosome, when G6PD gene mutation
When, enzymatic activity shows as significantly lacking；Women has two X chromosomes, when the wherein G6PD gene mutation of an X chromosome,
As soon as and other X chromosome it is normal when, formed in vivo " chimera " of two class red blood cells, the women be G6PD deficiency disease base
Because of carrier, Enzyme activities range is very big, can act normally, can also appear as substantial lack；When two X dyeing of women
When the G6PD gene of body mutates, enzymatic activity can show as moderate or substantial lack.
The molecular basis of G6PD deficiency disease is gene mutation, and G6PD gene is located at 2 areas 8 of x chromosome long arm with (Xq28),
Full length gene 20114bp is made of 13 exons and 12 intrones, is encoded head of district 1548bp, is encoded 515 amino acid.
With to G6PD molecular structure constantly illustrate and study deepen continuously, with WHO standard method identify G6PD biochemistry change
For abnormal shape up to more than 400, genic mutation type reaches more than 160.In Chinese population, A95G, G1376T, G1388A, G871T,
5 kinds of mutation types such as C1024T are most common genic mutation types in Chinese population, account for about 90% or more of total mutation rate.
Mainly there are hemoglobin urine examination, ferrihemoglobin also to the diagnostic method of G6PD deficiency disease patient both at home and abroad at present
Original test, heinz body generate test, GSH assay, fluorescent stains and red blood cell G6PD determination of activity etc. and try
It tests.Although zymetology detection can accurately detect male's semizygote and female homozygote, to G6PD deficiency disease gene
Carrier " heterozygote " female patient (its Enzyme activities range is very big: it is both can behave as normal, can also be down to semizygote water
It is flat) Enzyme assay is difficult to detect and the main reason for the current laboratory missing inspection of G6PD deficiency disease.In addition to this, these are given birth to
Time-consuming and cumbersome for the method for change detection, and the baby for being only applicable in and being born, helpless to pre-natal diagnosis.
Summary of the invention
A kind of detection G6PD deficiency disease is provided it is an object of the invention to overcome the shortcomings of the prior art place
The kit of Disease-causing gene mutation, can quickly and easily find the carrier and patient of Disease-causing gene, can be applied to antenatal
Diagnosis reduces the disease incidence of G6PD deficiency disease.
To achieve the goals above, the present invention adopts the following technical scheme:
A kind of kit of detection G6PD deficiency disease Disease-causing gene mutation, including following component:
(1) the 1st to the 13rd exons coding district PCR amplification of G6PD and sequencing primer 11 are right, and primer sequence is as described in Table 1；
(2) standard PCR amplification reagent, such as dNTP, Taq archaeal dna polymerase；
(3) Standard PCR product purification reagent, such as plain agar sugar gel DNA QIAquick Gel Extraction Kit；
(4) conventional DNA sequencing reagent, such as BigDye mix, EDTA solution, ethanol solution, HI-DI solution.
The PCR amplification and sequencing primer sequence of the 1st to the 13rd exon 1 of table 1G6PD gene
The DNA sequence dna that the primer sequence amplifies is as shown in SEQ ID NO.1.
Kit of the invention is by following methods for detecting the mutation of G6PD deficiency disease Disease-causing gene, including following step
It is rapid:
(1), the genomic DNA of sample is extracted；
(2), G6PD gene PCR expands
Using primer sequence described in claim 1；Each PCR amplification system total volume is 15 μ L, includes Taq enzyme mixed liquor
7.5 μ L (dNTP, l0 × PCR reaction buffer, MgCl2), 5.5 μ L of deionized water, 0.5 μ L of primer (l0uM), genomic DNA
(100ng/ul)1ul；PCR reaction condition be 94 DEG C 3 minutes, carry out 14 circulation 94 DEG C 30 seconds, 62 DEG C 30 seconds, 72 DEG C 40
Second；Then carry out 30 circulation 94 DEG C 30 seconds, 55 DEG C 30 seconds, 72 DEG C 40 seconds, finally carry out 72 DEG C 10 minutes；
(3), PCR product purifies
Rubber tapping purified pcr product is carried out using the operating procedure of Tiangeng plain agar sugar gel DNA QIAquick Gel Extraction Kit, is obtained
Corresponding target DNA fragment；
(4), DNA sequencing reaction
Each reaction system total volume is 10 μ L, including 1 μ L of PCR purified product, BigDye mix (Bigdye, 5 × seq)
0.5 μ L of 2.2 μ L and sequencing primer, surplus is deionized water；Reaction condition is 96 DEG C of 1min, carries out 96 DEG C of 33 circulations
10sec, 56 DEG C of 10sec, 60 DEG C of 2.5min；
2.5 μ L EDTA are added in every pipe after reaction, 30 μ L100% ethyl alcohol cover, and shake 4 times, are protected from light standing 15
Minute, 3860rpm, 25 DEG C of centrifugation 40min inhale and abandon supernatant liquid；100 μ L70% pre-cooled ethanols are added, cover, 3860rpm, 25
DEG C centrifugation 15 minutes, inhale abandon supernatant liquid；It makes alcohol clean in room temperature volatilization, 8 μ LHi-Di dissolving DNAs is added；In PCR instrument
Denaturation: 95 DEG C 4 minutes, on ice stand 4 minutes, be put into sequenator.
Compared with prior art, the present invention realize the utility model has the advantages that
(1) present invention can quickly and easily find the carrier and patient of Disease-causing gene, can be widely applied to antenatal
Diagnosis reduces the disease incidence of G6PD deficiency disease；
(2) present invention can accurately differentiate that subject's genotype belongs to heterozygous mutant or homozygous mutation, to reduce
Fail to pinpoint a disease in diagnosis the probability of heterozygous mutant carrier；
(3) the present invention is based on the method for PCR reaction and generation sequencing, SNP detection is carried out, accuracy is significantly improved.
Detailed description of the invention
Fig. 1 is G6PD exon 1 sequencing result schematic diagram in embodiment 2；
Fig. 2 is G6PD Exon 2 sequencing result schematic diagram in embodiment 2；
Fig. 3 is the 3rd exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Fig. 4 is the 4th exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Fig. 5 is the 5th exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Fig. 6 is the 6th exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Fig. 7 is the 7th exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Fig. 8 is the 8th exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Fig. 9 is the 9th exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Figure 10 is G6PD gene exon10 sequencing result schematic diagram in embodiment 2；
Figure 11 is the 11st exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Figure 12 is the 12nd exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Figure 13 is the 13rd exon sequencing result schematic diagram of G6PD gene in embodiment 2；
Figure 14 is G6PD Exon 2 sequencing result schematic diagram in embodiment 3；
Figure 15 is the 3rd exon sequencing result schematic diagram of G6PD gene in embodiment 3；
Figure 16 is the 4th exon sequencing result schematic diagram of G6PD gene in embodiment 3；
Figure 17 is the 5th exon sequencing result schematic diagram of G6PD gene in embodiment 3；
Figure 18 is the 6th exon sequencing result schematic diagram of G6PD gene in embodiment 3；
Figure 19 is the 7th exon sequencing result schematic diagram of G6PD gene in embodiment 3；
Figure 20 is the 8th exon sequencing result schematic diagram of G6PD gene in embodiment 3；
Figure 21 is the 9th exon sequencing result schematic diagram of G6PD gene in embodiment 3；
Figure 22 is G6PD gene exon10 sequencing result schematic diagram in embodiment 3；
Figure 23 is the 11st exon sequencing result schematic diagram of G6PD gene in embodiment 3；
Figure 24 is the 12nd exon sequencing result schematic diagram of G6PD gene in embodiment 3；
Figure 25 is the 13rd exon sequencing result schematic diagram of G6PD gene in embodiment 3.
Specific embodiment
In order to illustrate more clearly of technical solution of the present invention, it is further described below in conjunction with each embodiment.
Embodiment 1
The kit whether one person-portion detection G6PD deficiency disease Disease-causing gene mutates, including following component:
(1) the 1st to the 13rd exons coding district PCR amplification of G6PD gene and sequencing primer 11 are right, and every primer 1OD draws
Object sequence is shown in Table 1；
(2) PCR amplification reagent: 7.5 μ L of Taq enzyme mixed liquor (dNTP, l0 × PCR reaction buffer, MgCl2)；
(3) PCR product purified reagent: plain agar sugar gel DNA QIAquick Gel Extraction Kit (centrifugal column type) (Tiangeng, DP209)；
(4) sequencing reagent: 2.2 μ L BigDyemix (Bigdye, 5 × seq), 2.5 μ L EDTA, 30 μ L ethanol solutions
(100%), 100 μ L ethanol solutions (70%), 8 μ L Hi-Di.
This kit is stored in -20 DEG C, reduces multigelation to the greatest extent.
Embodiment 2
The use step of kit whether one person-portion detection G6PD deficiency disease Disease-causing gene mutates includes:
(1) genomic DNA of sample is extracted；
(2) G6PD gene PCR expands
PCR amplification is carried out according to 1 design primer of table for G6PD gene 1-13 exons coding district.Each reaction system
It include 7.5 μ L of Taq enzyme mixed liquor (dNTP, l0 × PCR reaction buffer, MgCl2), 5.5 μ of deionized water for total volume 15u1
L, 0.5 μ L of primer (l0uM), genomic DNA (100ng/ul) 1ul.Reaction condition be 94 DEG C 3 minutes, carry out 14 circulation 94
DEG C 30 seconds, 62 DEG C 30 seconds, 72 DEG C 40 seconds；94 DEG C 3 minutes, then carry out again 30 circulation 94 DEG C 30 seconds, 55 DEG C 30 seconds, 72 DEG C
40 seconds；Finally carry out 72 DEG C 10 minutes.
(3) PCR product purifies
Rubber tapping purifying PCR is carried out using plain agar sugar gel DNA QIAquick Gel Extraction Kit (centrifugal column type) (Tiangeng, DP209)
Product obtains corresponding target DNA fragment；
(4) DNA sequencing reaction
The system of each reaction is total volume 10u1,1 μ L of PCR purified product, BigDye mix (Bigdye, 5 × seq)
0.5 μ L of 2.2 μ L and sequencing primer, adds water to supply 10 μ L.Reaction condition is 96 DEG C of 1min, carries out 96 DEG C of 10sec of 33 circulations,
56 DEG C of 10sec, 60 DEG C of 2.5min；
2.5 μ L EDTA are added in every pipe after reaction, 30 μ L100% ethyl alcohol cover, and shake 4 times, are protected from light standing 15
Minute, 3860rpm, 25 DEG C of centrifugation 40min inhale and abandon supernatant liquid；100 μ L70% pre-cooled ethanols are added, cover, 3860rpm, 25
DEG C centrifugation 15 minutes, inhale abandon supernatant liquid；It makes alcohol clean in room temperature volatilization, 8 μ LHi-Di dissolving DNAs is added；In PCR instrument
Denaturation: 95 DEG C 4 minutes, on ice stand 4 minutes.It is put into sequenator.
(5) interpretation of result
Direct Sequencing is carried out to G6PD gene, result reading is carried out on sequenator, consults sequencing inspection with software Chromas
It surveys as a result, sequencing result schematic diagram such as Fig. 1 to Figure 13.The sequence of measurement and GenBank database G6PD gene order are carried out
Compare, G6PD gene order is as shown in SEQ ID NO.1, and the amino acid sequence of corresponding coding is as shown in SEQ ID NO.2, as a result
Show that kit of the invention for detecting the mutant of G6PD deficiency disease Disease-causing gene, can quickly and easily find pathogenic
The carrier and patient of gene can be applied to pre-natal diagnosis, reduce the disease incidence of G6PD deficiency disease.
Embodiment 3
G6PD gene magnification primer screening experiment, including following primer sequence and reagent:
(1) the 2nd to the 13rd exons coding district PCR amplification of G6PD gene and sequencing primer 8 are right, every primer 1OD, primer
Sequence is shown in Table 2；
(2) PCR amplification reagent: 2.5U Taq polymerase, 200umol/L dNTP, l0 × PCR reaction buffer,
1.5mmol/L MgCl2；
(3) PCR product purified reagent: plain agar sugar gel DNA QIAquick Gel Extraction Kit (centrifugal column type) (Tiangeng, DP209)；
(4) sequencing reagent: 2.2 μ L BigDyemix (Bigdye, 5 × seq), 2.5 μ L EDTA, 30 μ L ethanol solutions
(100%), 100 μ L ethanol solutions (70%), 8 μ L Hi-Di.
Table 2 screens G6PD gene 2-13 exons coding district PCR amplification and sequencing primer sequence
G6PD gene magnification primer screening experiment operating procedure includes:
(1) genomic DNA of sample is extracted
(2) G6PD gene PCR expands
PCR amplification is carried out according to 2 design primer of table for G6PD gene 2-13 exons coding district.PCR reaction system
Draw comprising 2.5U Taq polymerase, 200umol/L dNTP, l0 × PCR reaction buffer, 1.5mmol/L MgCl2,100ng
Object, 1ug genomic DNA.PCR reaction condition is 94 DEG C of denaturation 90 seconds for carrying out 35 circulations, and 58 DEG C are annealed 90 seconds, 72 DEG C of extensions
3 minutes.
(3) PCR product purifies
Rubber tapping purifying PCR is carried out using plain agar sugar gel DNA QIAquick Gel Extraction Kit (centrifugal column type) (Tiangeng, DP209)
Product obtains corresponding target DNA fragment.
(4) DNA sequencing reaction
The system of each reaction is total volume 10u1,1 μ L of PCR purified product, BigDye mix (Bigdye, 5 × seq)
0.5 μ L of 2.2 μ L and sequencing primer, adds water to supply 10 μ L.Reaction condition is 96 DEG C of 1min, carries out 96 DEG C of 10sec of 33 circulations,
56 DEG C of 10sec, 60 DEG C of 2.5min.
2.5 μ L EDTA are added in every pipe after reaction, 30 μ L100% ethyl alcohol cover, and shake 4 times, are protected from light standing 15
Minute, 3860rpm, 25 DEG C of centrifugation 40min inhale and abandon supernatant liquid；100 μ L70% pre-cooled ethanols are added, cover, 3860rpm, 25
DEG C centrifugation 15 minutes, inhale abandon supernatant liquid；It makes alcohol clean in room temperature volatilization, 8 μ LHi-Di dissolving DNAs is added；In PCR instrument
Denaturation: 95 DEG C 4 minutes, on ice stand 4 minutes.It is put into sequenator.
(5) interpretation of result
Direct Sequencing is carried out to G6PD gene, result reading is carried out on sequenator, consults sequencing inspection with software Chromas
It surveys as a result, sequencing result schematic diagram such as Figure 14 to Figure 25.The sequence of measurement and GenBank database G6PD gene order are carried out
Compare, G6PD gene order is as shown in SEQ ID NO.1, and the amino acid sequence of corresponding coding is as shown in SEQ ID NO.2, as a result
Show that wherein the 4th exon, the 7th exon sequencing result have miscellaneous peak, the 5th exon, the 6th exon, the 8th exon,
9 exons, exon10, the 13rd exon sequencing result are that peak figure is imperfect, of poor quality.
It should be understood that those skilled in the art can make the present invention various after having read above content of the invention
Change or modification, these equivalent forms also fall within the scope of the appended claims of the present application.
Claims (3)
1. a kind of kit of detection G6PD deficiency disease Disease-causing gene mutation, which is characterized in that it includes following component: G6PD the
1 to the 13rd exons coding district PCR amplification and sequencing primer 11 to, PCR amplification reagent, PCR product purified reagent, DNA sequencing
Reagent；
The primer sequence are as follows:
2. such as the kit of claim 1 detection G6PD deficiency disease Disease-causing gene mutation, which is characterized in that the primer sequence expands
Increase DNA sequence dna out as shown in SEQ ID NO.1.
3. such as the kit of claim 1 detection G6PD deficiency disease Disease-causing gene mutation, which is characterized in that pass through following detections
The mutation of G6PD deficiency disease Disease-causing gene,
(1), the genomic DNA of sample is extracted；
(2), G6PD gene PCR expands
Using primer sequence described in claim 1；Each PCR amplification system total volume is 15 μ L, includes 7.5 μ of Taq enzyme mixed liquor
L (dNTP, l0 × PCR reaction buffer, MgCl2), 5.5 μ L of deionized water, 0.5 μ L of primer (l0uM), genomic DNA
(100ng/ul)1ul；PCR reaction condition be 94 DEG C 3 minutes, carry out 14 circulation 94 DEG C 30 seconds, 62 DEG C 30 seconds, 72 DEG C 40
Second；Then carry out 30 circulation 94 DEG C 30 seconds, 55 DEG C 30 seconds, 72 DEG C 40 seconds, finally carry out 72 DEG C 10 minutes；
(3), PCR product purifies
Rubber tapping purified pcr product is carried out using the operating procedure of Tiangeng plain agar sugar gel DNA QIAquick Gel Extraction Kit, is obtained corresponding
Target DNA fragment；
(4), DNA sequencing reaction
Each reaction system total volume is 10 μ L, including 1 μ L of PCR purified product, BigDye mix (Bigdye, 5 × seq) 2.2 μ
0.5 μ L of L and sequencing primer, surplus is deionized water；Reaction condition be 96 DEG C of 1min, carry out 33 circulation 96 DEG C of 10sec, 56
DEG C 10sec, 60 DEG C of 2.5min；
2.5 μ L EDTA are added in every pipe after reaction, 30 μ L100% ethyl alcohol cover, and shake 4 times, it is protected from light standing 15 minutes,
3860rpm, 25 DEG C of centrifugation 40min inhale and abandon supernatant liquid；100 μ L70% pre-cooled ethanols are added, cover, 3860rpm, 25 DEG C from
It the heart 15 minutes, inhales and abandons supernatant liquid；It makes alcohol clean in room temperature volatilization, 8 μ LHi-Di dissolving DNAs is added；It is denaturalized in PCR instrument:
95 DEG C 4 minutes, on ice stand 4 minutes, be put into sequenator.
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Cited By (2)
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| CN110358821A (en) * | 2019-07-16 | 2019-10-22 | 上海艾迪康医学检验所有限公司 | Detect primer, kit and the method for glucose 6 phosphate dehydrogenase deficiency G6PD gene mutation |
| CN113249496A (en) * | 2021-06-30 | 2021-08-13 | 北京嘉宝仁和医疗科技有限公司 | Single gene defect detection method, primer composition and kit for single gene defect detection of Xq28 region |
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Application publication date: 20181228 |
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