CN113138281B - Detection device and electronic equipment for primary hemophagocytic syndrome - Google Patents
Detection device and electronic equipment for primary hemophagocytic syndrome Download PDFInfo
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Abstract
The invention discloses a detection device and electronic equipment for primary hemophagocytic syndrome, and relates to the technical field of biomedicine, wherein the detection device comprises: it comprises the following steps: the first acquisition module, the judging module, the second acquisition module and the detection module are sequentially used for: and (3) acquiring whether the level of the target protein in the sample to be detected is abnormal, if the expression of the target protein is abnormal, prompting the possibility that the patient suffers from primary HLH, and further detecting the coding gene corresponding to the target protein so as to complete diagnosis of the primary HLH. The detection device has short time consumption and low cost for determining the primary HLH, can be used as an early screening means of the primary HLH, and plays an auxiliary role in early development of treatment and subsequent diagnosis of the primary HLH.
Description
Technical Field
The invention relates to the technical field of biomedicine, in particular to a detection device and electronic equipment for primary hemophagocytic syndrome.
Background
Hemophagocytic syndrome, also known as hemophagocytic lymphocytosis (hemophagocytic lymphohistiocytosis, HLH), is an excessive inflammatory response syndrome caused by dysregulation of the immune system due to a variety of factors. Such immune dysregulation is mainly caused by abnormal activation, proliferation, and secretion of a large amount of inflammatory cytokines by lymphocyte, monocyte, and phagocyte systems, resulting in a series of inflammatory reactions. Clinically, it is mainly characterized by persistent fever, hepatosplenomegaly, whole blood cytopenia, and hemophagia found in bone marrow, liver, spleen and lymph node tissues. HLH is generally classified into two major categories, "primary/hereditary" and "secondary/acquired" due to trigger differences.
Primary hemophagocytic syndrome is an autosomal and/or sex chromosome recessive genetic disorder, and can be classified into Familial HLH (FHL), immunodeficiency syndrome, and epstein barr virus-driven HLH. Currently, the HLH-2004 diagnostic guidelines established by the International organization's cyto-Congress clearly indicate that gene defects are gold standards for the definitive diagnosis of primary HLH, and thus gene sequencing detection remains the primary means of diagnosing primary HLH at present.
However, in practical clinical applications, the limitation is large. On the one hand, the gene sequencing is long and takes about 3-4 months, the HLH is rapid in progress and high in death rate, and often patients die without obtaining the etiology diagnosis result, so that the prognosis is obviously influenced while treatment is delayed; on the other hand, the gene sequencing cost is high, partial patients cannot bear the burden, the conventional screening method cannot be used, and the primary HLH is different from other types of HLH, namely, the allogenic hematopoietic stem cells must be transplanted for long-term alleviation in the subsequent treatment, so that the purpose of early screening is achieved by adopting a relatively simple detection method, and the method is very necessary.
In view of this, the present invention has been made.
Disclosure of Invention
The invention aims to provide a detection device and electronic equipment for primary hemophagocytic syndrome.
The invention is realized in the following way:
In a first aspect, an embodiment of the present invention provides a device for detecting primary hemophagocytic syndrome, including:
The first acquisition module is used for acquiring detection information of the expression level of the target protein in the sample to be detected; wherein the target protein comprises: perforin, munc13-4, syntaxin11, munc18-2, SAP, XIAP, rab27a, LYST, ADTB A, ITK, CD27 and MAGT1;
the judging module is used for judging whether the target protein in the sample to be detected has abnormal expression or not according to the detection information; if abnormal expression occurs, marking the target protein with abnormal expression as a marked protein; if the expression of the target protein is not abnormal, judging that the sample to be tested does not accord with the set condition;
the second acquisition module is used for acquiring the coding gene information of the marker protein in the sample to be detected when the sample to be detected meets the set condition;
And the detection module is used for determining that the sample to be detected meets a set condition according to the acquired gene information.
In a second aspect, an embodiment of the present invention provides an electronic device, including a processor and a machine-readable storage medium having stored thereon machine-executable instructions that, when executed, cause the processor to implement a method for detecting primary hemophagocytic syndrome;
the detection method of the primary hemophagocytic syndrome comprises the following steps:
obtaining detection information of the expression level of the target protein in a sample to be detected; wherein the target protein comprises: perforin, munc13-4, syntaxin11, munc18-2, SAP, XIAP, rab27a, LYST, ADTB A, ITK, CD27 and Mg 2+ transporter;
Judging whether the target protein in the sample to be detected has abnormal expression or not according to the detection information; if abnormal expression occurs, marking the target protein with abnormal expression as a marked protein; if no abnormality occurs, judging that the sample to be tested does not accord with a set condition;
Obtaining coding gene information corresponding to the marker protein in a sample to be detected meeting a set condition;
and determining whether the sample to be detected meets the set condition according to the gene information.
In a third aspect, embodiments of the present invention provide a machine-readable storage medium having stored thereon machine-executable instructions that, when executed, implement a method of detecting primary hemophagocytic syndrome;
the detection method of the primary hemophagocytic syndrome comprises the following steps:
obtaining detection information of the expression level of the target protein in a sample to be detected; wherein the target protein comprises: perforin, munc13-4, syntaxin11, munc18-2, SAP, XIAP, rab27a, LYST, ADTB A, ITK, CD27 and Mg 2+ transporter;
Judging whether the target protein in the sample to be detected has abnormal expression or not according to the detection information; if abnormal expression occurs, marking the target protein with abnormal expression as a marked protein; if no abnormality occurs, judging that the sample to be tested does not accord with the set condition;
Obtaining coding gene information corresponding to the marker protein in a sample to be detected meeting a set condition;
and determining whether the sample to be detected meets the set condition according to the gene information.
The invention has the following beneficial effects:
The embodiment of the invention provides a detection device for primary hemophagocytic syndrome, which comprises: the first acquisition module, the judging module, the second acquisition module and the detection module are sequentially used for: and (3) acquiring whether the level of the target protein in the sample to be detected is abnormal, if the expression of the target protein is abnormal, prompting the possibility that the patient suffers from primary HLH, and further detecting the coding gene corresponding to the target protein so as to complete diagnosis of the primary HLH. The detection device has short time consumption and low cost for determining the primary HLH, can be used as an early screening means of the primary HLH, and plays an auxiliary role in early development of treatment and subsequent diagnosis of the primary HLH.
Drawings
In order to more clearly illustrate the technical solutions of the embodiments of the present invention, the drawings that are needed in the embodiments will be briefly described below, it being understood that the following drawings only illustrate some embodiments of the present invention and therefore should not be considered as limiting the scope, and other related drawings may be obtained according to these drawings without inventive effort for a person skilled in the art.
FIG. 1 shows the WB detection result in test example 1;
FIG. 2 shows the result of gene sequencing in test example 1;
FIG. 3 shows the WB detection result in test example 2;
FIG. 4 shows the results of sequencing the genes of the patients in test example 2;
fig. 5 shows the results of the family investigation of the patients in test example 2.
Detailed Description
In order to make the objects, technical solutions and advantages of the embodiments of the present invention more clear, the technical solutions of the embodiments of the present invention will be clearly and completely described below. The specific conditions are not noted in the examples and are carried out according to conventional conditions or conditions recommended by the manufacturer. The reagents or apparatus used were conventional products commercially available without the manufacturer's attention.
It is noted that relational terms such as "first" and "second", and the like, are used solely to distinguish one entity or action from another entity or action without necessarily requiring or implying any actual such relationship or order between such entities or actions. Moreover, the terms "comprises," "comprising," or any other variation thereof, are intended to cover a non-exclusive inclusion, such that a process, method, article, or apparatus that comprises a list of elements does not include only those elements but may include other elements not expressly listed or inherent to such process, method, article, or apparatus. Without further limitation, an element defined by the phrase "comprising one … …" does not exclude the presence of other like elements in a process, method, article, or apparatus that comprises the element.
The embodiment of the invention provides a detection device for primary hemophagocytic syndrome, which comprises at least one functional module which can be stored in a machine-readable storage medium in a software form, and a processor is used for calling and executing instructions in the machine-readable storage medium so as to realize a detection method for primary hemophagocytic syndrome described later.
The device for detecting the primary hemophagocytic syndrome comprises a first acquisition module, a judging module, a second acquisition module and a detection module.
The first acquisition module is used for acquiring detection information of the expression level of the target protein in the sample to be detected; wherein the target protein comprises: perforin, munc13-4, syntaxin11, munc18-2, SAP, XIAP, rab27a, LYST, ADTB A, ITK, CD27 and MAGT1;
the judging module is used for judging whether the target protein in the sample to be detected has abnormal expression or not according to the detection information; if abnormal expression occurs, marking the target protein with abnormal expression as a marked protein; if the expression of the target protein is not abnormal, judging that the sample to be tested does not accord with the set condition;
the second acquisition module is used for acquiring the coding gene information of the marker protein in the sample to be detected when the sample to be detected meets the set condition;
And the detection module is used for determining that the sample to be detected meets a set condition according to the acquired gene information.
The detection information and the gene information of the target protein expression level can be obtained through existing protein detection and gene sequencing, detection data are uploaded to a set database, and the information stored in the database is acquired by a first acquisition module and a second acquisition module.
The inventor provides the detection device through a series of creative labor efforts. The detection device judges the expression level of the target protein in the sample to be detected, if the target protein has abnormal expression, the detection device prompts the patient to have high possibility of corresponding primary HLH, and then the detection device clearly diagnoses whether the sample is corresponding type primary HLH according to the sequencing of the related genes of the target protein with abnormal expression. The method has short time consumption of about 2-3 days and low cost, can be used as an early screening means of the primary HLH, and plays an auxiliary role in early development of treatment and subsequent diagnosis of the primary HLH.
In some embodiments, the detection means for obtaining the expression level of the target protein includes, but is not limited to, immunowestern blotting (WB), immunohistochemistry, and ELISA detection. The specific detection process is not particularly limited, and can be implemented through the technical content disclosed in the prior art.
Preferably, the detection module is further configured to:
Judging whether homozygous mutation occurs in a set region of a coding gene of the marker protein;
If homozygous mutation occurs, judging that the sample to be tested meets a set condition;
And if the homozygous mutation does not occur, judging that the sample to be tested does not meet the set condition.
Specifically, the setting region is selected from at least one of the following (1) to (12):
(1) PRF1, chromosome, NC_000010.11 (base 70597348 ～ 70602741);
(2) UNC13D, chromosome, nc_000017.11 (base 75827225 ～ 75844404);
(3) STX11, chromosome, nc_000006.12 (base 144140044 ～ 144191939);
(4) STXBP2, chromosome, NC_000019.10 (base 7637110 ～ 7647873);
(5) RAB27A, chromosome, nc_000015.10 (base 55202966 ～ 55291338);
(6) LYST, chromosome, NC_000001.11 (base 235661031 ～ 235883713);
(7) AP3B1, chromosome, NC_000005.10 (base 78000522 ～ 78294704);
(8) SH2D1A, chromosome X, NC-000023.11 (base 124346563 ～ 124373160);
(9) BIRC4, chromosome X, nc_000023.11 (base 123859708 ～ 123913972);
(10) ITK, chromosome, nc_000005.10 (base 157180840 ～ 157255185);
(11) CD27, chromosome, nc_000012.12 (base 6444867 ～ 6451718);
(12) MAGT1, chromosome X, NC-000023.11 (base 77825747 ～ 77895568).
Preferably, the detection module is further used for determining the type of the primary hemophagocytic syndrome based on the coding gene subjected to homozygous mutation according to table 1 when the sample to be detected meets the set condition.
TABLE 1 correspondence between abnormal protein expression and related gene defects and primary HLH
| Encoded proteins | Related genes | Parting type |
| Perforin element | PRF1 | FHL-2 |
| Munc13-4 | Unc13D | FHL-3 |
| Syntaxin11 | STX11 | FHL-4 |
| Munc18-2 | STXBP2 | FHL-5 |
| Rab27a | RAB27A | GS-2 |
| LYST | LYST | CHS-1 |
| ADTB3A | AP3B1 | HPS-II |
| SAP | SH2D1A | XLP-1 |
| XIAP | BIRC4 | XLP-2 |
| ITK | ITK | ITK |
| CD27 | CD27 | CD27 |
| Mg 2+ transporter | MAGT1 | XMEN |
。
Optionally, the setting conditions are: conditions with primary hemophagocytic syndrome.
Optionally, the sample to be tested is a blood sample.
Alternatively, the abnormal expression of the target protein means that the target protein appears: any one of expression deficiency, expression decrease and expression excess;
the expression reduction refers to that the expression quantity of the target protein is less than or equal to 50% of the expression quantity when the target protein is not mutated;
the expression excess means that the expression quantity of the target protein is more than or equal to 50% of the expression quantity when the target protein is not mutated.
The embodiment of the invention also provides electronic equipment, which comprises a processor and a machine-readable storage medium, wherein the machine-readable storage medium is stored with machine-executable instructions, and the machine-executable instructions, when executed, cause the processor to realize a detection method of the primary hemophagocytic syndrome;
the detection method of the primary hemophagocytic syndrome comprises the following steps:
Obtaining detection information of the expression level of the target protein in a sample to be detected; wherein the target protein comprises: perforin, munc13-4, syntaxin11, munc18-2, SAP, XIAP, rab27a, LYST, ADTB A, ITK, CD27 and MAGT1;
Judging whether the target protein in the sample to be detected has abnormal expression or not according to the detection information; if abnormal expression occurs, marking the target protein with abnormal expression as a marked protein; if no abnormality occurs, judging that the sample to be tested does not accord with the set condition;
Obtaining coding gene information corresponding to the marker protein in a sample to be detected meeting a set condition;
and determining whether the sample to be detected meets the set condition according to the gene information.
Optionally, the setting conditions are: conditions with primary hemophagocytic syndrome.
In particular, the electronic device may include a machine-readable storage medium, a processor, a bus, and a communication interface that are electrically connected directly or indirectly to each other to enable transmission or interaction of data. For example, the elements may be electrically connected to each other via one or more buses or signal lines. The processor may process information and/or data related to object recognition to perform one or more of the functions described in this disclosure.
The machine-readable storage medium may be, but is not limited to, random access Memory (Random Access Memory, RAM), read Only Memory (ROM), programmable Read Only Memory (Programmable Read-Only Memory, PROM), erasable Read Only Memory (Erasable Programmable Read-Only Memory, EPROM), electrically erasable Read Only Memory (Electric Erasable Programmable Read-Only Memory, EEPROM), and the like.
The processor may be an integrated circuit chip having signal processing capabilities. The processor may be a general-purpose processor including a central processing unit (Central Processing Unit, CPU), a network processor (Network Processor, NP), etc.; but may also be a digital signal processor (DIGITAL SIGNAL Processing, DSP), application SPECIFIC INTEGRATED Circuit (ASIC), field-Programmable gate array (Field-Programmable GATE ARRAY, FPGA) or other Programmable logic device, discrete gate or transistor logic device, discrete hardware components.
The components in the electronic device may be implemented in hardware, software, or a combination thereof. In practical applications, the electronic device may be a server, a cloud platform, a mobile phone, a tablet computer, a notebook computer, an ultra-mobile personal computer (UMPC), a handheld computer, a netbook, a Personal Digital Assistant (PDA), a wearable electronic device, a virtual reality device, etc., so the embodiments of the present application do not limit the types of electronic devices. Preferably, the criteria for determining whether there is a primary hemophagocytic syndrome are: if the specific region of the related gene of the marker protein is subjected to homozygous mutation, determining that the main body of the sample to be tested has the primary hemophagocytic syndrome, otherwise, determining that the main body of the sample to be tested does not have the primary hemophagocytic syndrome.
Preferably, the detection method further comprises: judging whether homozygous mutation occurs in a set region of a coding gene of the marker protein;
If homozygous mutation occurs, judging that the sample to be tested meets a set condition;
And if the homozygous mutation does not occur, judging that the sample to be tested does not meet the set condition.
Preferably, when the sample to be tested meets the set conditions, the type of the primary hemophagocytic syndrome is determined based on the coding gene in which the homozygous mutation occurs according to table 1. The embodiment of the invention also provides a machine-readable storage medium, wherein machine-executable instructions are stored on the machine-readable storage medium, and the machine-executable instructions realize a detection method of the primary hemophagocytic syndrome when being executed;
the detection method of the primary hemophagocytic syndrome comprises the following steps:
Obtaining detection information of the expression level of the target protein in a sample to be detected; wherein the target protein comprises: perforin, munc13-4, syntaxin11, munc18-2, SAP, XIAP, rab27a, LYST, ADTB A, ITK, CD27 and MAGT1;
Judging whether the target protein in the sample to be detected has abnormal expression or not according to the detection information; if abnormal expression occurs, marking the target protein with abnormal expression as a marked protein; if no abnormality occurs, judging that the sample to be tested does not accord with the set condition;
Obtaining coding gene information corresponding to the marker protein in a sample to be detected meeting a set condition;
and determining whether the sample to be detected meets the set condition according to the gene information.
Optionally, the setting conditions are: conditions with primary hemophagocytic syndrome.
The features and capabilities of the present invention are described in further detail below in connection with the examples.
Example 1
The embodiment provides a detection method of primary hemophagocytic syndrome, which comprises the following steps: for HLH patients (subjects to be tested) to be screened for etiology, mononuclear cells (PBMC, samples to be tested) of peripheral blood are sorted, and immunoblotting (western blot) is used to detect the expression of the target proteins (perforin, munc13-4, syncaxin 11, munc18-2, SAP, XIAP, rab, a, LYST, ADTB a, ITK, CD27 and MAGT 1), and if the deletion, significant drop or abnormal expression of a certain target protein occurs, the patient is prompted to have the possibility of primary HLH, the target protein with abnormal expression is labeled as a marker protein, and then the gene of the marker protein in the samples to be tested is further subjected to sequencing inspection to make a clear diagnosis.
The detection method for the target protein comprises the following steps.
(1) Obtaining a sample to be tested:
EDTA or heparin sodium anticoagulation venous whole blood 8mL, ficoll density gradient centrifugation method for separating Peripheral Blood Mononuclear Cells (PBMC); adding 70-150 mu L of precooled protein lysate, and incubating on ice for 30 minutes; centrifuging at 12000rpm at 4deg.C for 15min to obtain supernatant;
(2) Determining the expression level of the protein of interest:
Protein boiling: according to the protein: after mixing 4×loading buffer=3:1, mixing, water-bathing at 100 ℃ for 5 minutes;
preparing 12% SDS-PAGE gel;
Loading and electrophoresis: protein markers and cooked protein samples to be analyzed (10 μg per well) were added sequentially. Concentrating gel generally at 70V, separating gel at 120V, and electrophoresis until bromophenol dye front lower gel end position is stopped;
Transferring: PVDF film, constant current film transfer;
closing: placing the membrane in a small box, adding 5% skimmed milk powder, and sealing on a color shaker at room temperature for 2 hours;
Directly adding prepared primary antibody (STXBP-2, syntaxin11, rab27a, CD27, perforin, munc13-4, AP3B1, XIAP, SAP, MAGT1, LYST), diluting with 5% skimmed milk powder/TBST to proper concentration), decolorizing at room temperature, standing at 4deg.C for 2 hr, and refrigerating overnight;
taking out the membrane, washing the membrane with TBST on a decolorizing shaking table at room temperature for 10 minutes each time for three times;
Adding the prepared secondary antibody (diluted to a proper concentration by 5% skimmed milk powder/TBST), and shaking on a decolorizing shaker at room temperature for 1 hour;
taking out the membrane, washing the membrane with TBST on a decolorizing shaking table at room temperature for 10 minutes each time for three times;
The prepared light-emitting liquid is dropped on the protein side of the membrane, the two are fully contacted, a fluorescence imaging analyzer program is set, and the development is operated.
(3) Primary hemophagocytic syndrome and its belonging type are determined according to table 1.
Test example 1
One example of an HLH patient (III 2), its normal human father (II 1) and mother (II 2) was tested using the method provided in example 1.
The WB detection results are shown in fig. 1, and the semi-quantitative results are shown in table 2.
TABLE 2 semi-quantitative results
| Internal reference gray scale | XIAP | XIAP/internal reference | |
| II1 | 10559208 | 7531704 | 0.713283 |
| III2 | 11105809 | 892944 | 0.080403 |
| II2 | 13939047 | 14207436 | 1.019254 |
From the WB results, the result of WB screening of HLH patients was a defect in XIAP protein expression, and semi-quantitative results showed a significant decrease in XIAP protein expression in patients (III 2).
Then, the result is shown in figure 2, and the HLH patient has BIRC4 gene hemizygous variation, which is the primary HLH (XLP-2 type), and the patient mother (II 2) has BIRC4 gene heterozygous mutation, but because of normal xiAP protein expression, the clinical manifestation of HLH is avoided.
Test example 2
An example of an HLH patient and its parents were tested using the method provided in example 1.
After the patient is screened for a defect in expression of the Perforin protein by WB (see FIG. 3 for WB results), sanger sequencing verifies that the PRF1 gene (encoding the Perforin protein) of the patient has complex heterozygous missense mutations (c.46C > T) and (c.1066C > T), and is clearly diagnosed as primary HLH (FHL 2). The results of gene sequencing of patients are shown in FIG. 4.
From the family survey results (see FIG. 5), it is clear that the two mutation sites of the patient are derived from both parents. Both parents had heterozygous mutation of PRF1 gene, and the protein of Perforin was expressed normally, and no clinical manifestation of HLH occurred.
The above description is only of the preferred embodiments of the present invention and is not intended to limit the present invention, but various modifications and variations can be made to the present invention by those skilled in the art. Any modification, equivalent replacement, improvement, etc. made within the spirit and principle of the present invention should be included in the protection scope of the present invention.
Claims (8)
1. A device for detecting primary hemophagocytic syndrome, comprising:
The first acquisition module is used for acquiring detection information of the expression level of the target protein in the sample to be detected; wherein the target protein comprises: perforin, munc13-4, syntaxin11, munc18-2, SAP, XIAP, rab27a, LYST, ADTB A, ITK, CD27 and MAGT1;
the judging module is used for judging whether the target protein in the sample to be detected has abnormal expression or not according to the detection information; if abnormal expression occurs, marking the target protein with abnormal expression as a marked protein; if the expression of the target protein is not abnormal, judging that the sample to be tested does not accord with the set condition;
The second acquisition module is used for acquiring the coding gene information of the marker protein in the sample to be detected when the sample to be detected meets the set condition;
The detection module is used for determining that the sample to be detected meets a set condition according to the acquired coding gene information;
The detection module is also used for: determining whether or not a homozygous mutation occurs in a set region of a gene encoding the marker protein, the set region being selected from at least one of the following regions (1) to (12):
(1) PRF1, chromosome, NC_000010.11, base 70597348 ～ 70602741;
(2) UNC13D, chromosome, nc_000017.11, base 75827225 ～ 75844404;
(3) STX11, chromosome, NC_000006.12, base 144140044 ～ 144191939;
(4) STXBP2, chromosome, NC_000019.10, base 7637110 ～ 7647873;
(5) RAB27A, chromosome, nc_000015.10, base 55202966 ～ 55291338;
(6) LYST, chromosome, NC_000001.11, base 235661031 ～ 235883713;
(7) AP3B1, chromosome, NC_000005.10, base 78000522 ～ 78294704;
(8) SH2D1A, chromosome X, NC_000023.11, base 124346563 ～ 124373160;
(9) BIRC4, chromosome X, nc_000023.11, base 123859708 ～ 123913972;
(10) ITK, chromosome, NC_000005.10, base 157180840 ～ 157255185;
(11) CD27, chromosome, NC_000012.12, base 6444867 ～ 6451718;
(12) MAGT1, chromosome X, NC-000023.11, base 77825747 ～ 77895568;
If homozygous mutation occurs, judging that the sample to be tested meets a set condition;
if the homozygous mutation does not occur, judging that the sample to be tested does not accord with a set condition;
The method for obtaining the detection information of the expression level of the target protein in the sample to be detected is immunoWestern blotting, immunohistochemical method or ELISA detection.
2. The device according to claim 1, wherein the detection module is further configured to determine the type of the primary hemophagocytic syndrome based on the coding gene in which the homozygous mutation occurs according to the following table when the sample to be tested meets the set condition:
。
3. The device for detecting primary hemophagocytic syndrome according to any one of claims 1 to 2, wherein the set conditions are: conditions with primary hemophagocytic syndrome.
4. The device for detecting primary hemophagocytic syndrome as claimed in claim 1, wherein said sample to be detected is a blood sample.
5. An electronic device comprising a processor and a machine-readable storage medium having stored thereon machine-executable instructions that, when executed, cause the processor to implement a method of detecting primary hemophagocytic syndrome;
the detection method of the primary hemophagocytic syndrome comprises the following steps:
Obtaining detection information of the expression level of the target protein in a sample to be detected; wherein the target protein comprises: perforin, munc13-4, syntaxin11, munc18-2, SAP, XIAP, rab27a, LYST, ADTB A, ITK, CD27 and MAGT1;
Judging whether the target protein in the sample to be detected has abnormal expression or not according to the detection information; if abnormal expression occurs, marking the target protein with abnormal expression as a marked protein; if no abnormality occurs, judging that the sample to be tested does not accord with the set condition;
Obtaining coding gene information corresponding to the marker protein in a sample to be detected meeting a set condition;
determining whether a sample to be detected meets a set condition according to the gene information, wherein the detection method comprises the following steps: judging whether homozygous mutation occurs in a set region of a coding gene of the marker protein;
If homozygous mutation occurs, judging that the sample to be tested meets a set condition;
if the homozygous mutation does not occur, judging that the sample to be tested does not accord with a set condition;
wherein the setting region is selected from at least one of the following (1) to (12):
(1) PRF1, chromosome, NC_000010.11, base 70597348 ～ 70602741;
(2) UNC13D, chromosome, nc_000017.11, base 75827225 ～ 75844404;
(3) STX11, chromosome, NC_000006.12, base 144140044 ～ 144191939;
(4) STXBP2, chromosome, NC_000019.10, base 7637110 ～ 7647873;
(5) RAB27A, chromosome, nc_000015.10, base 55202966 ～ 55291338;
(6) LYST, chromosome, NC_000001.11, base 235661031 ～ 235883713;
(7) AP3B1, chromosome, NC_000005.10, base 78000522 ～ 78294704;
(8) SH2D1A, chromosome X, NC_000023.11, base 124346563 ～ 124373160;
(9) BIRC4, chromosome X, nc_000023.11, base 123859708 ～ 123913972;
(10) ITK, chromosome, NC_000005.10, base 157180840 ～ 157255185;
(11) CD27, chromosome, NC_000012.12, base 6444867 ～ 6451718;
(12) MAGT1, chromosome X, NC-000023.11, base 77825747 ～ 77895568.
6. The electronic device of claim 5, wherein the set condition is: conditions with primary hemophagocytic syndrome.
7. A machine-readable storage medium having stored thereon machine-executable instructions, wherein the machine-executable instructions, when executed, implement a method of detecting primary hemophagocytic syndrome;
the detection method of the primary hemophagocytic syndrome comprises the following steps:
Obtaining detection information of the expression level of the target protein in a sample to be detected; wherein the target protein comprises: perforin, munc13-4, syntaxin11, munc18-2, SAP, XIAP, rab27a, LYST, ADTB A, ITK, CD27 and MAGT1;
judging whether the target protein in the sample to be detected has abnormal expression or not according to the detection information;
if abnormal expression occurs, marking the target protein with abnormal expression as a marked protein; if no abnormality occurs, judging that the sample to be tested does not accord with the set condition;
Obtaining coding gene information corresponding to the marker protein in a sample to be detected meeting a set condition;
determining whether a sample to be detected meets a set condition according to the gene information, wherein the detection method comprises the following steps: judging whether homozygous mutation occurs in a set region of a coding gene of the marker protein;
If homozygous mutation occurs, judging that the sample to be tested meets a set condition;
if the homozygous mutation does not occur, judging that the sample to be tested does not accord with a set condition;
The setting region is selected from at least one of the following (1) to (12):
(1) PRF1, chromosome, NC_000010.11, base 70597348 ～ 70602741;
(2) UNC13D, chromosome, nc_000017.11, base 75827225 ～ 75844404;
(3) STX11, chromosome, NC_000006.12, base 144140044 ～ 144191939;
(4) STXBP2, chromosome, NC_000019.10, base 7637110 ～ 7647873;
(5) RAB27A, chromosome, nc_000015.10, base 55202966 ～ 55291338;
(6) LYST, chromosome, NC_000001.11, base 235661031 ～ 235883713;
(7) AP3B1, chromosome, NC_000005.10, base 78000522 ～ 78294704;
(8) SH2D1A, chromosome X, NC_000023.11, base 124346563 ～ 124373160;
(9) BIRC4, chromosome X, nc_000023.11, base 123859708 ～ 123913972;
(10) ITK, chromosome, NC_000005.10, base 157180840 ～ 157255185;
(11) CD27, chromosome, NC_000012.12, base 6444867 ～ 6451718;
(12) MAGT1, chromosome X, NC-000023.11, base 77825747 ～ 77895568.
8. The machine-readable storage medium of claim 7, wherein the set condition is: conditions with primary hemophagocytic syndrome.
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| 路瑾.第二十三章第一节噬血细胞综合征.《血液内科诊疗常规》.中国医药科技出版社,2020, * |
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