CN112036237A - Chromosome chimera identification and judgment method and system and chromosome karyotype analysis method - Google Patents

Abstract

The invention belongs to the technical field of chromosome karyotype analysis, and in particular relates to a method and system for identifying and judging chromosome mosaics and a method for analyzing chromosome karyotype, wherein the method for identifying and determining chromosome mosaicism comprises: obtaining a chromosome karyotype map; Whether it is a chromosomal mosaicism; and the ratio of obtaining a chromosome mosaicism, realizing intelligent and accurate identification of chromosome mosaicism, and providing a basis for subsequent treatment of mosaicism.

Description

Chromosomal mosaicism identification and judgment method, system and chromosome karyotype analysis method

technical field

The invention belongs to the technical field of chromosome karyotype analysis, and in particular relates to a chromosome mosaic identification and judgment method, a system and a chromosome karyotype analysis method.

Background technique

Chromosomal karyotype analysis can effectively identify chromosomal mosaicism. Since an individual develops from a fertilized egg, he generally has only one cell line, that is, only one karyotype. However, during the cleavage process of the fertilized egg and the process of cell division in the early stage of embryonic development, if chromosomes do not segregate, the number or shape of chromosomes will change in some cells of an embryo, causing an individual to have several cells with different karyotypes at the same time. system, this situation is called chimera.

For example, the expression "45,X/46,XX" means that there are cell lines of these two karyotypes in the human body at the same time. This means that there are two karyotypes in an individual, "46, XX" means it is normal 23 pairs of 46 chromosomes including 2 X sex chromosomes, "45, X" means that only 45 chromosomes are missing 1 X Sex chromosomes, this situation is considered to be Turner syndrome, the general clinical will require termination of pregnancy and the use of third-generation IVF.

The identification and judgment of chromosomal mosaicism can be helpful for the diagnosis of diseases.

Therefore, based on the above technical problems, it is necessary to design a new chromosomal mosaic identification and judgment method, system and karyotype analysis method.

SUMMARY OF THE INVENTION

The purpose of the present invention is to provide a chromosomal mosaic identification and judgment method, system and chromosomal karyotype analysis method.

In order to solve the above-mentioned technical problems, the present invention provides a method for identifying and judging chromosome mosaicism, comprising:

Obtain a karyotype map;

Determine whether it is a chromosomal mosaic according to the karyotype map; and

Obtain the proportion of chromosomal mosaicism.

Further, the method for obtaining a karyotype map includes:

Acquire metaphase mitotic images for several karyotypes.

Further, the method for judging whether it is a chromosomal mosaic according to the karyotype diagram includes:

Obtain the total number of chromosomes in each chromosome karyotype map, and determine whether it is an abnormal mosaicism according to the type of the total number of chromosomes, that is,

When there are two or more kinds of the total number of chromosomes, it is judged as a number-abnormal mosaic.

Further, the method for obtaining the proportion of chromosomal mosaicism includes:

When it is judged to be an abnormal number of mosaics, obtain the number of chromosome karyotype maps with abnormal number of chromosomes;

The proportion of chromosomal mosaicism was obtained according to the ratio of the number of karyotypes with abnormal number of chromosomes to all karyotypes.

In a second aspect, the present invention also provides a chromosome karyotype analysis method, comprising:

Obtain several karyotype maps;

Determine whether it is a chromosomal mosaic according to several karyotypes; and

Karyotype analysis was performed according to the type of chimera.

Further, the method for judging whether it is a chromosomal mosaic according to several karyotype maps is suitable for identifying and judging a chromosomal mosaic using the above-mentioned method for identifying and judging a chromosomal mosaic.

Further, the method for obtaining several karyotype maps includes:

Prepare cell chromosome specimen slides, and obtain metaphase chromosome mitotic images by observing the slides to obtain several karyotype maps.

Further, the method for karyotyping according to the type of chimera includes:

When it is judged to be a chromosomal mosaic, karyotype analysis is performed on the karyotype map corresponding to the total number of chromosomes;

When judged to be non-chromosomal mosaicism, the karyotype map was analyzed.

In a third aspect, the present invention also provides a system for identifying and judging chromosomal mosaicism, comprising:

Get the module to get the karyotype map;

a judgment module, which judges whether it is a chromosomal mosaic according to the karyotype diagram; and

Ratio acquisition module to obtain the proportion of chromosome mosaicism.

The beneficial effects of the present invention are that the present invention realizes intelligent and accurate identification of chromosomal chimeras by obtaining a chromosomal karyotype map; judging whether it is a chromosomal chimera according to the chromosomal karyotype map; Provide evidence.

Other features and advantages of the present invention will be set forth in the description which follows, and in part will be apparent from the description, or may be learned by practice of the invention. The objectives and other advantages of the invention will be realized and attained by the structure particularly pointed out in the description, claims and drawings.

In order to make the above-mentioned objects, features and advantages of the present invention more obvious and easy to understand, preferred embodiments are given below, and are described in detail as follows in conjunction with the accompanying drawings.

Description of drawings

In order to illustrate the specific embodiments of the present invention or the technical solutions in the prior art more clearly, the following briefly introduces the accompanying drawings that need to be used in the description of the specific embodiments or the prior art. Obviously, the accompanying drawings in the following description The drawings are some embodiments of the present invention. For those of ordinary skill in the art, other drawings can also be obtained based on these drawings without creative efforts.

Fig. 1 is the flow chart of the chromosomal mosaic identification and judgment method involved in the present invention;

Fig. 2 is the chromosome karyotype diagram of 45,X involved in the present invention;

Fig. 3 is the chromosome karyotype diagram of 46,XX involved in the present invention;

Fig. 4 is the flow chart of the chromosome karyotype analysis method involved in the present invention;

FIG. 5 is a schematic block diagram of the chromosome mosaic identification and determination system according to the present invention.

Detailed ways

In order to make the purposes, technical solutions and advantages of the embodiments of the present invention clearer, the technical solutions of the present invention will be clearly and completely described below with reference to the accompanying drawings. Obviously, the described embodiments are part of the embodiments of the present invention, but not all of them. example. Based on the embodiments of the present invention, all other embodiments obtained by those of ordinary skill in the art without creative efforts shall fall within the protection scope of the present invention.

Example 1

FIG. 1 is a flow chart of the method for identifying and judging chromosomal mosaicism according to the present invention.

As shown in FIG. 1 , Embodiment 1 provides a method for identifying and judging a chromosome mosaic, including: obtaining a chromosome karyotype map; judging whether it is a chromosome mosaic body according to the chromosome karyotype map; In order to intelligently and accurately identify chromosomal mosaicism, it can provide a basis for subsequent treatment of mosaicism, avoid the errors existing in the identification of artificial chromosome mosaicism by traditional doctors, and can accurately obtain the proportion of chromosome mosaicism.

In this embodiment, the method for obtaining a karyotype map includes: obtaining a metaphase chromosome mitotic image of a single individual to obtain several karyotype maps; Slides (for example, blood samples, amniotic fluid, villi, and umbilical cord blood, etc. are drawn to prepare cell chromosome specimen slides) for observation or scanning to obtain metaphase mitotic images, and then directly obtain several karyotypes.

Fig. 2 is the chromosome karyotype diagram of 45,X involved in the present invention;

Fig. 3 is a karyotype diagram of 46,XX involved in the present invention.

In this embodiment, the method for judging whether it is a chromosomal mosaicism according to a karyotype map includes: obtaining the total number of chromosomes in each karyotype map, and judging whether it is an abnormal number mosaicism according to the type of the total number of chromosomes (according to the chromosome The number of the total number of species to determine the number of karyotypes), that is, when there are two or more types of total chromosomes, the individual is judged to be an abnormal chimera; for example, as shown in Figure 2 and Figure 3, an individual's If there are two karyotypes "45,X/46,XX" in each karyotype map, the individual is judged to be an abnormal mosaic.

In this embodiment, the method for obtaining the proportion of chromosomal mosaicism includes: when it is determined that the number of abnormal chimeras is, obtaining the number of karyotype maps with an abnormal number of chromosomes; according to the number of karyotype maps with an abnormal number of chromosomes The proportion of all karyotype maps to obtain the proportion of chromosomal mosaicism; take the example of the existence of two karyotypes "45,X/46,XX" in each karyotype map of an individual, obtain all chromosomal karyotype maps The number of chromosome karyotypes with the karyotype of "45,X" in the middle, the proportion of this karyotype to all chromosomal karyotypes is the proportion of chromosomal mosaicism; before the karyotype analysis, it is determined whether it is a chromosomal mosaicism Syncytia can increase the accuracy of karyotype analysis at later stages.

Example 2

Fig. 4 is a flow chart of the karyotype analysis method involved in the present invention.

As shown in FIG. 4 , on the basis of Embodiment 1, Embodiment 2 further provides a method for analyzing chromosome karyotypes, including: acquiring several karyotype maps; judging whether it is a chromosomal mosaic according to several karyotype maps; And karyotype analysis according to the type of chimera.

In this embodiment, the method for judging whether it is a chromosomal mosaic according to several karyotype maps is suitable for identifying and judging a chromosomal mosaic using the method for identifying and judging a chromosomal mosaic described in Embodiment 1.

In this embodiment, the method for obtaining several karyotype maps includes: preparing a slide of cell chromosome specimens, and obtaining a metaphase chromosome mitotic phase image by observing the slide to obtain several karyotype maps, that is, preparing a cell chromosome sample Slides (e.g., blood samples, amniotic fluid, villi, and umbilical cord blood, etc. are drawn to prepare slides for cell chromosome specimens), and metaphase mitotic images are obtained by observing the slides; Microscope, etc., or directly through the German MetaSystems karyotype analysis workstation) to observe or scan the glass slides to obtain metaphase chromosome division images, and then directly obtain several karyotype maps.

In this embodiment, the method for performing karyotype analysis according to the type of chimera includes: when chromosomal mosaicism is determined, karyotype analysis is performed on the chromosome karyotype map corresponding to the total number of chromosomes (for example, when the chromosome mosaicism is chromosomal mosaicism) When the fusion is a mosaic of two chromosomal karyotypes, karyotype analysis is performed on both karyotypes); when it is judged to be a non-chromosomal mosaicism, the karyotype map is analyzed (that is, all karyotype maps only If there is a karyotype, the karyotype is analyzed).

Example 3

FIG. 5 is a schematic block diagram of the chromosome mosaic identification and determination system according to the present invention.

As shown in FIG. 5 , on the basis of Embodiment 1, Embodiment 3 also provides a system for identifying and judging chromosomal mosaicism, including: an acquisition module for acquiring a chromosomal karyotype diagram; a judgment module for judging according to the chromosomal karyotype diagram Whether it is a chromosomal mosaicism; and a proportion acquisition module to obtain the proportion of chromosome mosaicism.

In this embodiment, the acquisition module acquires the chromosome karyotype map, the determination module determines whether it is a chromosomal mosaic according to the chromosome karyotype map, and the method for the ratio acquisition module to acquire the proportion of the chromosome mosaic is described in detail in Embodiment 1, and in this It is not repeated in the embodiment.

To sum up, the present invention realizes intelligent and accurate identification of chromosomal chimera by obtaining a chromosomal karyotype map; judging whether it is a chromosomal chimera according to the chromosomal karyotype map; .

In the several embodiments provided in this application, it should be understood that the disclosed system and method can also be implemented in other manners. The system embodiments described above are merely illustrative, for example, the flowcharts and block diagrams in the Figures illustrate the architecture, functionality, and possible implementations of systems, methods and computer program products according to various embodiments of the present invention. operate. In this regard, each block in the flowchart or block diagrams may represent a module, segment, or portion of code that contains one or more functions for implementing the specified logical function(s) executable instructions. It should also be noted that, in some alternative implementations, the functions noted in the block may occur out of the order noted in the figures. For example, two blocks in succession may, in fact, be executed substantially concurrently, or the blocks may sometimes be executed in the reverse order, depending upon the functionality involved. It is also noted that each block of the block diagrams and/or flowchart illustrations, and combinations of blocks in the block diagrams and/or flowchart illustrations, can be implemented in dedicated hardware-based systems that perform the specified functions or actions , or can be implemented in a combination of dedicated hardware and computer instructions.

In addition, each functional module in each embodiment of the present invention may be integrated to form an independent part, or each module may exist independently, or two or more modules may be integrated to form an independent part.

If the functions are implemented in the form of software function modules and sold or used as independent products, they can be stored in a computer-readable storage medium. Based on this understanding, the technical solution of the present invention can be embodied in the form of a software product in essence, or the part that contributes to the prior art or the part of the technical solution. The computer software product is stored in a storage medium, including Several instructions are used to cause a computer device (which may be a personal computer, a server, or a network device, etc.) to execute all or part of the steps of the methods described in the various embodiments of the present invention. The aforementioned storage medium includes: U disk, mobile hard disk, Read-Only Memory (ROM, Read-Only Memory), Random Access Memory (RAM, Random Access Memory), magnetic disk or optical disk and other media that can store program codes .

Taking the above ideal embodiments according to the present invention as inspiration, and through the above description, relevant personnel can make various changes and modifications without departing from the technical idea of the present invention. The technical scope of the present invention is not limited to the content in the specification, and the technical scope must be determined according to the scope of the claims.

Claims (9)

1. A method for identifying and judging a chromosome chimera, which is characterized by comprising the following steps:

obtaining a chromosome karyotype chart;

judging whether the chromosome is a chromosome chimera according to the chromosome karyotype chart; and

and obtaining the proportion of the chromosome chimera.

2. The method for identifying and determining a chromosome chimera according to claim 1,

the method for acquiring the chromosome karyotype chart comprises the following steps:

metaphase chromosome split phase images are acquired to acquire several chromosome karyotype maps.

3. The method for identifying and determining a chromosome chimera according to claim 2,

the method for judging whether the chromosome is a chromosome chimera or not according to the chromosome karyotype chart comprises the following steps:

obtaining the total number of chromosomes in each chromosome karyotype chart, and judging whether the total number of chromosomes is abnormal chimera according to the types of the total number of chromosomes, namely

The number-abnormal chimera is judged when there are two or more kinds of the total number of chromosomes.

4. The method for identifying and determining a chromosome chimera according to claim 3,

the method for obtaining the proportion of the chromosome chimera comprises the following steps:

when the number of the chimeras is judged to be abnormal, acquiring the number of the chromosome karyotype images with abnormal chromosome number;

the proportion of the chromosome chimera is obtained according to the proportion of the number of chromosome karyotype maps with chromosome number abnormality in all chromosome karyotype maps.

5. A method of karyotyping, comprising:

obtaining a plurality of chromosome karyotype maps;

judging whether the chromosome is a chromosome chimera according to the plurality of chromosome karyotype maps; and

karyotyping was performed according to the type of chimera.

6. The karyotyping method according to claim 5, wherein,

the method for judging whether the chromosome is a chromosome chimera or not according to a plurality of chromosome karyotype maps is suitable for the identification judgment of the chromosome chimera by the method for identifying and judging the chromosome chimera according to any one of claims 1 to 4.

7. The karyotyping method according to claim 5, wherein,

the method for acquiring the karyotype maps of the plurality of chromosomes comprises the following steps:

preparing a cell chromosome specimen slide, and acquiring a metaphase chromosome split phase image by observing the slide to acquire a plurality of chromosome karyotype images.

8. The karyotyping method according to claim 7, wherein,

the method for karyotyping according to the kind of chimera comprises the following steps:

when the chromosome is judged to be a chromosome chimera, carrying out karyotype analysis on the chromosome karyotype graph corresponding to the total number of each chromosome;

when it is judged to be a non-chromosomal chimera, the chromosome karyotype chart is analyzed.

9. A system for identifying and determining a chromosome chimera, comprising:

the acquisition module is used for acquiring a chromosome karyotype chart;

the judging module judges whether the chromosome is a chromosome chimera according to the chromosome karyotype chart; and

and the proportion acquisition module is used for acquiring the proportion of the chromosome chimera.

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