Gene chip for screening genetic diseases

By designing interval arrangement detection areas and interlaced detection components on the gene chip, the interference problem caused by unreasonable arrangement of traditional gene chip probes is solved, and the accuracy and reliability of signal recognition are improved.

CN222795567UActive Publication Date: 2025-04-25PEKING UNIVERSITY FIRST HOSPITAL (PEKING UNIVERSITY FIRST CLINICAL MEDICAL COLLEGE)
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Patent Information

Application Number
CN202421465841.5
Authority / Receiving Office
CN · China
Patent Type
Utility models(China)
Current Assignee / Owner
Filing Date
2024-06-25
Publication Date
2025-04-25
Estimated Expiration
2034-06-25

AI Technical Summary

Technical Problem

Traditional gene chips have defects in design, and unreasonable probe arrangement leads to mutual interference between adjacent probes, affecting the accuracy and reliability of signal recognition.

Method used

A genetic disease screening gene chip is designed, including multiple spaced detection areas, each detection array formed by interlaced detection components to avoid interference between probes.

Benefits of technology

Through the detection areas arranged in intervals and the detection components arranged in staggered arrangement, the accuracy and reliability of signal recognition are improved, and the detection efficiency and flexibility of gene chips are enhanced.

✦ Generated by Eureka AI based on patent content.

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Abstract

The utility model provides a genetic disease screening gene chip, which relates to the technical field of disease screening, and comprises a chip body, the chip body is provided with a plurality of detection areas, and the plurality of detection areas are arranged at intervals; a detection array is arranged in the detection area and is formed by arranging a plurality of detection assemblies in a staggered manner. According to the utility model, the chip body is provided with a plurality of detection areas which are arranged at intervals according to a specific rule, so that different disease types can be simultaneously and independently detected, and the detection efficiency is improved. Moreover, in the detection area, the detection assemblies are arranged in a staggered manner to form a detection array, so that the density of the detection array is ensured, mutual interference among the probes is avoided, the accuracy and reliability of signal identification are improved, and more accurate and reliable technical support is provided for screening and diagnosis of genetic diseases.
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Description

Technical Field

[0001] The utility model relates to the technical field of disease screening, in particular to a genetic disease screening gene chip. Background Art

[0002] Single gene genetic diseases refer to genetic diseases controlled by a pair of alleles. Currently, more than 8,000 single gene genetic diseases have been discovered, with a combined incidence rate of up to 1 / 100. These diseases are usually difficult to detect during routine pregnancy examinations and are not discovered until symptoms appear after birth. Most single gene genetic diseases can cause death, malformation or disability, and less than 10% have treatment plans or drugs, and most require lifelong treatment, which is very expensive.

[0003] Carrier screening before or in the early stages of pregnancy is the most effective means of preventing single-gene genetic diseases. It can promptly detect the risk of giving birth to a child with the disease and combine it with genetic counseling, prenatal testing or diagnosis, assisted reproduction and other measures to effectively prevent the occurrence of serious single-gene genetic diseases. This is of great significance for reducing birth defects and improving the quality of the newborn population.

[0004] In clinical practice, multi-disease carrier screening has been widely used and received attention. Compared with single-disease screening, it is more economical and efficient for preventing single-gene genetic diseases. The main multi-disease screening technology currently used is NGS (next-generation sequencing technology), which can cover a wide range of diseases, but at the same time has disadvantages such as high cost, long cycle, large amount of data, and insufficient coverage depth, which increases the difficulty of large-scale clinical promotion and causes trouble for doctors' genetic counseling.

[0005] Compared with NGS technology, gene chip technology has the characteristics of low cost, short cycle, high throughput, and easy popularization, and is more suitable for clinical screening applications. Gene chips can detect tens of thousands of mutation sites at a time. Through special probe design, they can simultaneously detect multiple mutation types of genetic diseases. In addition, the detection sites are highly targeted, making it easier for clinicians to interpret and guide patients. Therefore, in the field of genetic disease screening, gene chip technology has also received more and more attention and application.

[0006] However, traditional gene chips have design flaws. The arrangement of probes on the chip is unreasonable, which may cause interference between adjacent probes, affecting the accuracy and reliability of the final signal recognition. In addition, the storage and access design of gene chips is unreasonable, the storage effect is very poor, the access operation is cumbersome, and the work efficiency is low.

[0007] In view of this, the present utility model is proposed. Utility Model Content

[0008] The purpose of the utility model is to provide a genetic disease screening gene chip to solve the technical problems that the conventional gene chip in the prior art has design defects and the arrangement of the probes on the chip is unreasonable, which may cause interference between adjacent probes and affect the accuracy and reliability of the final signal recognition. The preferred technical solution among the many technical solutions provided by the utility model can produce many technical effects as described below.

[0009] In order to achieve the above purpose, the utility model provides the following technical solutions:

[0010] The utility model provides a genetic disease screening gene chip, comprising a chip body, wherein a detection area is arranged on the chip body, the number of the detection areas is multiple, and the multiple detection areas are arranged at intervals; a detection array is arranged in the detection area, and the detection array is formed by a plurality of detection components arranged in a staggered manner.

[0011] Preferably, the detection areas are arranged in sequence and at intervals along the length direction or the width direction of the chip body.

[0012] Preferably, the detection component includes a carrier and a probe part, the carrier is a spherical structure, a positioning groove is provided on the chip body, and the positioning groove is arranged in a one-to-one correspondence with the carrier for accommodating the carrier; the probe part is arranged on the carrier.

[0013] Preferably, the probe portion comprises an oligonucleotide probe having a fluorescent group, and the oligonucleotide probe is used to detect hereditary deafness gene, thalassemia gene, phenylketonuria gene, spinal muscular atrophy gene, hepatolenticular degeneration gene, methylmalonic acidemia gene, glycogen storage disease type II gene or pseudohypertrophic muscular dystrophy gene.

[0014] Preferably, the positioning groove covers at least 1 / 2 of the carrier, and an adhesive layer is provided between the positioning groove and the carrier.

[0015] Preferably, it also includes a storage structure, which includes a base, an upper cover and a accommodating portion, and the base is provided with a storage chamber for accommodating the accommodating portion; the upper cover is rotatably connected to the base, the accommodating portion is arranged on the bottom plate of the upper cover, and has a accommodating chamber for accommodating the chip body, the chip body is movably connected to the accommodating portion through a pop-up assembly, and the pop-up assembly has a first state and a second state, in the first state, the chip body is fixed in the accommodating portion, and in the second state, the chip body is driven by the pop-up assembly to separate from the accommodating portion.

[0016] Preferably, the pop-up assembly includes a sliding rod, a sliding part and a spring, one end of the spring is connected to the inner wall of the accommodating portion, and the other end is connected to the sliding part, a sliding groove is provided on the sliding part, one end of the sliding rod is rotatably connected to the inner wall of the accommodating portion, and the other end is slidably engaged with the sliding groove, and a step structure that only allows the sliding rod to move in one direction is provided on the sliding groove; the chip body is snap-fitted with the sliding part.

[0017] Preferably, a limiting member is provided on the sliding member, a limiting groove matched with the limiting member is provided on the chip body, a first guide block is provided on the sliding member, and a second guide block matched with the first guide block is provided on the chip body.

[0018] Preferably, a drying layer is provided on the inner wall of the accommodating chamber.

[0019] Preferably, a mounting groove is provided on the base, a first sealing member is provided on the mounting groove, and a second sealing member is provided on the upper cover; when the base and the upper cover are in a closed state, the first sealing member abuts against the upper cover, and the second sealing member abuts against the mounting groove.

[0020] The preferred technical solution of the utility model can also produce at least the following technical effects:

[0021] The utility model effectively avoids the technical problems that the traditional gene chip existing in the prior art has design defects and the arrangement of the probes on the chip is unreasonable, which may cause mutual interference between adjacent probes and affect the accuracy and reliability of the final signal recognition. The utility model provides a genetic disease screening gene chip, including a chip body, a detection area is provided on the chip body, the number of the detection areas is multiple, and the multiple detection areas are arranged at intervals; a detection array is provided in the detection area, and the detection array is formed by a plurality of detection components arranged in a staggered manner. By providing a plurality of detection areas arranged at intervals according to a specific rule on the chip body, the utility model can simultaneously and independently detect different types of diseases and improve the detection efficiency. Moreover, in the detection area, the detection array is formed by staggered arrangement of the detection components to ensure the density of the detection array. At the same time, mutual interference between the probes is avoided, the accuracy and reliability of signal recognition are improved, and more accurate and reliable technical support is provided for the screening and diagnosis of genetic diseases. BRIEF DESCRIPTION OF THE DRAWINGS

[0022] In order to more clearly illustrate the embodiments of the utility model or the technical solutions in the prior art, the drawings required for use in the embodiments or the description of the prior art will be briefly introduced below. Obviously, the drawings described below are only some embodiments of the utility model. For ordinary technicians in this field, other drawings can be obtained based on these drawings without paying creative work.

[0023] Figure 1 This is a schematic diagram of the structure of a chip body of a genetic disease screening gene chip provided by the utility model;

[0024] Figure 2 This is a schematic diagram of the structure of a detection area of ​​a genetic disease screening gene chip provided by the utility model;

[0025] Figure 3 yes Figure 2 Section view in AA direction;

[0026] Figure 4 This is a schematic diagram of the structure of a storage structure of a genetic disease screening gene chip provided by the utility model;

[0027] Figure 5 This is a schematic diagram of the structure of a genetic disease screening gene chip provided by the utility model, in which the chip body is in a locked state;

[0028] Figure 6 The utility model is a schematic structural diagram of a genetic disease screening gene chip in which the chip body is in an unlocked state.

[0029] In the figure:

[0030] 1. Chip body; 101. Detection area; 102. Detection assembly; 1021. Carrier; 1022. Probe unit; 103. Positioning groove; 104. Adhesion layer; 105. Limiting groove; 106. Second guide block; 2. Base; 201. Storage chamber; 202. Mounting groove; 203. First groove; 204. First sealing member; 205. Drying layer; 3. Upper cover; 301. Second groove; 302. Second sealing member; 303, rotating part; 4, accommodating part; 401, first side; 402, second side; 403, guide slide groove; 404, accommodating chamber; 5, pop-up assembly; 501, slide rod; 502, sliding part; 5021, sliding groove; 50211, step structure; 50212, recessed position; 50213, initial position; 5022, first guide block; 5023, limit member; 503, spring; 6, locking structure. DETAILED DESCRIPTION

[0031] In order to make the purpose, technical solution and advantages of the utility model clearer, the technical solution of the utility model will be described in detail below. Obviously, the described embodiments are only part of the embodiments of the utility model, not all of the embodiments. Based on the embodiments of the utility model, all other implementation methods obtained by ordinary technicians in this field without creative work belong to the scope of protection of the utility model.

[0032] The utility model provides a genetic disease screening gene chip, such as Figure 1 , 2 As shown in FIG. 3 , the chip body 1 includes a detection area 101, which is arranged in a plurality of intervals; a detection array is arranged in the detection area 101, and the detection array is formed by a plurality of detection components 102 arranged in an interlaced manner. The chip body is in the shape of a rectangular plate.

[0033] By providing a plurality of detection areas 101 arranged at intervals in a specific pattern on the chip body 1, different disease types can be detected simultaneously and independently, thereby improving detection efficiency. Moreover, since there are gaps between the detection areas 101, interference between adjacent detection areas 101 is reduced. The number of detection areas 101 can be set according to detection requirements, and each detection area 101 can be set with different detection arrays according to detection requirements, which has good flexibility.

[0034] In the detection area 101, the detection components 102 are arranged in a staggered manner to form a detection array, thereby ensuring the density of the detection array and avoiding mutual interference between probes, thereby improving the accuracy and reliability of signal recognition and providing more accurate and reliable technical support for the screening and diagnosis of genetic diseases. The staggered arrangement includes an oblique or other non-linear arrangement to increase the distance between two adjacent detection components 102.

[0035] As an optional implementation, the detection areas 101 are arranged in sequence and at intervals along the length direction or the width direction of the chip body 1 .

[0036] Furthermore, as shown in the figure, the detection areas 101 are arranged in sequence and at intervals along the length direction of the chip body 1 .

[0037] As an optional implementation, the detection component 102 includes a carrier 1021 and a probe part 1022. The carrier 1021 is a spherical structure. A positioning groove 103 is provided on the chip body 1. The positioning groove 103 is provided in a one-to-one correspondence with the carrier 1021 to accommodate the carrier 1021. The probe part 1022 is provided on the carrier 1021. Preferably, the diameter of the positioning groove is 3um and the depth is 2um.

[0038] Furthermore, the chip body 1 is preferably made of silicon dioxide. Positioning grooves 103 of the same specification are formed on the chip body 1 by laser etching, so that the carrier 1021 is accurately fixed at a predetermined position.

[0039] The carrier 1021 is a spherical structure with a large surface area, allowing more oligonucleotide probes to be attached thereto. The oligonucleotide probe has a large carrying capacity and can detect more samples, thereby improving the detection efficiency. The carrier 1021 is preferably a nano-silicon sphere.

[0040] As an optional embodiment, the probe portion 1022 includes an oligonucleotide probe with a fluorescent group, which is used to detect hereditary deafness genes GJB2, SLC26A4, MT-RNR1, GJB3, thalassemia genes HBA1, HBA2, HBB, phenylketonuria genes PAH, PTS, spinal muscular atrophy gene SMN1, hepatolenticular degeneration gene ATP7B, methylmalonic acidemia gene MMACHC, MMUT, MMAA, MMAB, glycogen storage disease type II gene GAA or pseudohypertrophic muscular dystrophy gene DMD.

[0041] The hydroxyl groups attached to the nano-silicon balls are first converted into amino groups by silanization reaction, and then the cyanyl chloride on the oligonucleotide probes reacts with the amino groups on the surface of the nano-silicon balls to form amine bonds, so that the oligonucleotide SNP probes are fixed on the nano-silicon balls to form the detection component 102. The sequence of the oligonucleotide probes and the detection principle thereof are prior art and will not be elaborated here.

[0042] As an optional implementation, the positioning groove 103 covers at least 1 / 2 of the carrier 1021 , and an adhesive layer 104 is disposed between the positioning groove 103 and the carrier 1021 .

[0043] Furthermore, the positioning groove 103 covers 2 / 3 of the carrier 1021 , thereby improving the stability of the connection between the carrier 1021 and the chip body 1 and preventing the carrier 1021 from moving or deviating during the detection process.

[0044] The function of the adhesive layer 104 is to firmly connect the carrier 1021 to the positioning groove 103 without negatively affecting the biological activity. The material of the adhesive layer 104 includes silane coupling agent or polymer glue.

[0045] As an optional implementation, Figure 4 , 5 , 6, also includes a storage structure, the storage structure includes a base 2, an upper cover 3 and a receiving portion 4, the base 2 is provided with a storage chamber 201 for receiving the receiving portion 4; the upper cover 3 is rotatably connected to the base 2, the receiving portion 4 is arranged on the bottom plate of the upper cover 3, and has a receiving chamber 404 for receiving the chip body 1, the chip body 1 is movably connected to the receiving portion 4 through a pop-up component 5, the pop-up component 5 has a first state and a second state, in the first state, the chip body 1 is fixed in the receiving portion 4, in the second state, the chip body 1 is driven by the pop-up component 5 to separate from the receiving portion 4.

[0046] Furthermore, the base 2 adopts a rectangular parallelepiped structure for easy storage and transportation. The base 2 is provided with a mounting groove 202 for fixing and positioning the upper cover 3, and the upper cover 3 is rotatably connected to the mounting groove 202 through a rotating member 303, so as to facilitate opening and closing of the upper cover 3 and taking out the chip body 1.

[0047] The accommodating portion 4 adopts a rectangular structure and is divided by a partition to form a accommodating chamber 404 and an installation chamber. The installation chamber is used to install the elastic component, and the accommodating chamber 404 is used to accommodate the chip body 1. The first side 401 of the accommodating portion 4 is fixedly connected to the bottom plate of the upper cover 3. The length of the second side 402 arranged opposite to the first side 401 is shorter than that of the first side 401, and is used to expose part of the chip body 1 for easy picking operation.

[0048] A guide groove 403 is arranged on the inner wall of the accommodating chamber 404. The guide groove 403 extends along the length direction of the chip body 1 and is arranged opposite to the elastic component so that the chip body 1 can slide smoothly along the guide groove 403 during movement. This arrangement enables the bottom surface of the chip body 1 to contact the first side surface 401 of the accommodating portion 4, while there is a certain gap between the detection surface of the chip body 1 and the second side surface 402, so that the detection component 102 will not be damaged during storage.

[0049] As an optional embodiment, the pop-up assembly 5 includes a slide bar 501, a slide member 502 and a spring 503, one end of the spring 503 is connected to the inner wall of the receiving portion 4, and the other end is connected to the slide member 502, a slide groove 5021 is provided on the slide member 502, one end of the slide bar 501 is rotatably connected to the inner wall of the receiving portion 4, and the other end is slidably matched with the slide groove 5021, and a step structure 50211 is provided on the slide groove 5021 that only allows the slide bar 501 to move in one direction; the chip body 1 is engaged with the slide member 502. A limiter 5023 is provided on the slide member 502, and a limiter groove 105 matched with the limiter 5023 is provided on the chip body 1, a first guide block 5022 is provided on the slide member 502, and a second guide block 106 matched with the first guide block 5022 is provided on the chip body 1.

[0050] Furthermore, the slide bar 501, the slide member 502 and the spring 503 are arranged in the accommodating chamber 404. An opening is provided on the partition plate for the slide member 502 to reciprocate, and the slide member 502 extends into the accommodating chamber 404 through the opening to form a first guide block 5022, the first guide block 5022 has a first slope surface that is inclined, and the second guide block 106 has a second slope surface that matches the first slope surface. The first guide block 5022 is connected to the limiter 5023 through a connecting member, and the limiter 5023 adopts a hook that can be deformed, and the thickness of the connecting member is smaller than the first guide block 5022 and the limiter 5023, and a space for accommodating and limiting the second guide block 106 is also formed between the limiter 5023 and the first guide block 5022.

[0051] The sliding groove 5021 is disposed on the portion of the sliding member 502 located in the accommodating chamber 404 . The sliding groove 5021 is Y-shaped so that the sliding rod 501 can slide in one direction along the sliding groove 5021 .

[0052] The locking process of the chip body 1: when the chip body 1 is driven by an external force to enter the accommodation chamber 404 along the guide slot 403, the chip body 1 pushes the sliding member 502 to move, and the first guide block 5022 of the chip body 1 abuts against the second guide block 106 to ensure that the chip body 1 moves along the guide slot 403. As the chip body 1 is pushed forward, a force is applied to the limiter 5023, so that the limiter 5023 is deformed and enters the limiter slot 105. In addition, during the movement of the sliding member 502, the spring 503 is in a stretched state, and the slide bar 501 automatically moves along the slide slot 5021. After the external force is released, the sliding member 502 moves outward under the restoring force of the spring 503, so that the slide bar 501 moves to the concave position 50212 of the slide slot 5021 and is stuck. The sliding member 502 cannot return to its original position and is locked. The pop-up component 5 is in the first state, that is, the chip body 1 is locked in the accommodation chamber 404.

[0053] The unlocking process of the chip body 1: the external force presses the chip body 1 inward, driving the sliding member 502 to move inward, and the sliding rod 501 will automatically move along the sliding groove 5021. After the external force is released, the sliding rod 501 returns to the initial position 50213 of the sliding groove 5021, and the sliding member 502 returns to the original position under the reset action of the spring 503 to drive the chip body 1 to pop out and take it. At this time, the pop-up component 5 is in the second state.

[0054] The width of the entrance end of the accommodating chamber 404 decreases from the outside to the inside, so that the chip body 1 can be guided into the chamber more easily.

[0055] The width of the chip body 1 at one end close to the second guide block 106 is smaller than that at the other end away from the second guide block 106 , so that the chip body 1 can be better inserted into the accommodating cavity 404 .

[0056] As an optional implementation, a drying layer 205 is provided on the inner wall of the containing chamber 404 .

[0057] The function of the drying layer 205 is to absorb and remove moisture in the storage environment of the accommodating chamber 404 to keep the chip body 1 dry and extend the service life of the chip body 1. The drying layer 205 adopts the existing technology.

[0058] As an optional implementation, a mounting groove 202 is provided on the base 2, a first sealing member 204 is provided on the mounting groove 202, and a second sealing member 302 is provided on the upper cover 3; when the base 2 and the upper cover 3 are in a closed state, the first sealing member 204 abuts against the upper cover 3, and the second sealing member 302 abuts against the mounting groove 202.

[0059] Furthermore, a first groove 203 is provided on the bottom plate of the mounting groove 202 for accommodating the first sealing member 204. A second groove 301 is provided at the edge of the bottom plate of the upper cover 3 for accommodating the second sealing member 302. The upper cover 3 may be provided with a handle or groove for easy gripping.

[0060] When the base 2 and the upper cover 3 are in a closed state, the first sealing member 204 abuts against the bottom plate of the upper cover 3 to form a first sealing barrier, and then the second sealing member 302 abuts against the bottom plate of the mounting groove 202 to form a second sealing barrier, thereby achieving a double sealing effect and forming a sealed environment for the accommodating chamber 404 to prevent external moisture, dust or other contaminants from entering.

[0061] The first sealing member 204 and the second sealing member 302 are made of a material having good elasticity and sealing performance.

[0062] As an optional implementation, the upper cover 3 and the base 2 are connected by a locking structure 6, so that when the upper cover 3 and the base 2 are in a closed state, the two can be firmly connected together to further ensure the sealing and protection effect. Among them, the locking structure 6 adopts the existing technology and will not be described in detail here.

[0063] As an optional implementation, the corners of the chip body 1, the upper cover 3, the base 2, and the receiving portion 4 are rounded to improve structural strength and comfort and avoid scratches.

[0064] It can be understood that the same or similar parts of the above embodiments can be referenced to each other, and the contents not described in detail in some embodiments can refer to the same or similar contents in other embodiments.

[0065] In the description of the present utility model, it should be noted that, unless otherwise specified, "multiple" means two or more; the orientations or positional relationships indicated by the terms "upper", "lower", "left", "right", "inner", "outer", "front end", "rear end", "head", "tail", etc. are based on the orientations or positional relationships shown in the drawings, and are only for the convenience of describing the present utility model and simplifying the description, rather than indicating or implying that the device or element referred to must have a specific orientation, be constructed and operated in a specific orientation, and therefore cannot be understood as limiting the present utility model. In addition, the terms "first", "second", "third", etc. are only used for descriptive purposes and cannot be understood as indicating or implying relative importance.

[0066] In the description of the present invention, it is also necessary to explain that, unless otherwise clearly specified and limited, the terms "installation", "connection", and "connection" should be understood in a broad sense, for example, it can be a fixed connection, a detachable connection, or an integral connection; it can be a mechanical connection or an electrical connection; it can be a direct connection or an indirect connection through an intermediate medium. For ordinary technicians in this field, the specific meanings of the above terms in the present invention can be understood according to the specific circumstances.

[0067] In the description of this specification, the description with reference to the terms "one embodiment", "some embodiments", "example", "specific example" or "an example" etc. means that the specific features, structures, materials or characteristics described in conjunction with the embodiment or example are included in at least one embodiment or example of the present application. In this specification, the schematic representation of the above terms does not necessarily refer to the same embodiment or example. Moreover, the specific features, structures, materials or characteristics described may be combined in any one or more embodiments or examples in a suitable manner.

[0068] The above is only a specific implementation of the utility model, but the protection scope of the utility model is not limited thereto. Any technician familiar with the technical field can easily think of changes or substitutions within the technical scope disclosed by the utility model, which should be included in the protection scope of the utility model. Therefore, the protection scope of the utility model should be based on the protection scope of the claims.

Claims

1. A genetic disease screening gene chip, characterized in that: It comprises a chip body, on which a detection area is arranged, the number of the detection areas is multiple, and the multiple detection areas are arranged at intervals; a detection array is arranged in the detection area, and the detection array is formed by a plurality of detection components arranged in a staggered manner.

2. A genetic disease screening gene chip according to claim 1, characterized in that: The detection areas are sequentially arranged at intervals along the length direction or the width direction of the chip body.

3. A genetic disease screening gene chip according to claim 2, characterized in that: The detection component includes a carrier and a probe part, the probe part is arranged on the carrier, the carrier is a spherical structure, and a positioning groove is arranged on the chip body. The positioning groove is arranged in a one-to-one correspondence with the carrier for accommodating the carrier.

4. A genetic disease screening gene chip according to claim 3, characterized in that: The probe part includes an oligonucleotide probe with a fluorescent group, and the oligonucleotide probe is used to detect hereditary deafness gene, thalassemia gene, phenylketonuria gene, spinal muscular atrophy gene, hepatolenticular degeneration gene, methylmalonic acidemia gene, glycogen storage disease type II gene or pseudohypertrophic muscular dystrophy gene.

5. A genetic disease screening gene chip according to claim 3, characterized in that: The positioning groove at least covers 1 / 2 of the carrier, and an adhesive layer is arranged between the positioning groove and the carrier.

6. A genetic disease screening gene chip according to claim 1, characterized in that: It also includes a storage structure, which includes a base, an upper cover and a receiving portion, wherein the base is provided with a storage chamber for receiving the receiving portion; the upper cover is rotatably connected to the base, the receiving portion is provided on the bottom plate of the upper cover, and has a receiving chamber for receiving the chip body, the chip body is movably connected to the receiving portion via a pop-up assembly, the pop-up assembly has a first state and a second state, in the first state, the chip body is fixed in the receiving portion, and in the second state, the chip body is driven by the pop-up assembly to detach from the receiving portion.

7. A genetic disease screening gene chip according to claim 6, characterized in that: The pop-up assembly includes a sliding rod, a sliding part and a spring, one end of the spring is connected to the inner wall of the accommodating portion, and the other end is connected to the sliding part, a sliding groove is provided on the sliding part, one end of the sliding rod is rotatably connected to the inner wall of the accommodating portion, and the other end is slidably matched with the sliding groove, and a step structure is provided on the sliding groove that only allows the sliding rod to move in one direction; the chip body is snap-fitted with the sliding part.

8. A genetic disease screening gene chip according to claim 7, characterized in that: The sliding member is provided with a limiting member, the chip body is provided with a limiting groove matched with the limiting member, the sliding member is provided with a first guide block, and the chip body is provided with a second guide block matched with the first guide block.

9. A genetic disease screening gene chip according to claim 6, characterized in that: A drying layer is arranged on the inner wall of the accommodating chamber.

10. A genetic disease screening gene chip according to any one of claims 6 to 9, characterized in that: The base is provided with a mounting groove, the mounting groove is provided with a first sealing member, and the upper cover is provided with a second sealing member; when the base and the upper cover are in a closed state, the first sealing member abuts against the upper cover, and the second sealing member abuts against the mounting groove.