CN112036237A - Chromosome chimera identification and judgment method and system and chromosome karyotype analysis method - Google Patents
Chromosome chimera identification and judgment method and system and chromosome karyotype analysis method Download PDFInfo
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- CN112036237A CN112036237A CN202010709662.1A CN202010709662A CN112036237A CN 112036237 A CN112036237 A CN 112036237A CN 202010709662 A CN202010709662 A CN 202010709662A CN 112036237 A CN112036237 A CN 112036237A
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- 210000000349 chromosome Anatomy 0.000 title claims abstract description 214
- 238000000034 method Methods 0.000 title claims abstract description 47
- 238000004458 analytical method Methods 0.000 title claims abstract description 15
- 230000031864 metaphase Effects 0.000 claims description 9
- 230000002159 abnormal effect Effects 0.000 claims description 7
- 231100000071 abnormal chromosome number Toxicity 0.000 claims description 4
- 230000002759 chromosomal effect Effects 0.000 claims description 3
- 230000005856 abnormality Effects 0.000 claims description 2
- 238000010586 diagram Methods 0.000 description 11
- 210000004027 cell Anatomy 0.000 description 4
- 230000006870 function Effects 0.000 description 4
- 210000004381 amniotic fluid Anatomy 0.000 description 2
- 210000004369 blood Anatomy 0.000 description 2
- 239000008280 blood Substances 0.000 description 2
- 235000013601 eggs Nutrition 0.000 description 2
- 210000004700 fetal blood Anatomy 0.000 description 2
- 210000003765 sex chromosome Anatomy 0.000 description 2
- 208000026928 Turner syndrome Diseases 0.000 description 1
- 210000004507 artificial chromosome Anatomy 0.000 description 1
- 230000032823 cell division Effects 0.000 description 1
- 238000003776 cleavage reaction Methods 0.000 description 1
- 238000004590 computer program Methods 0.000 description 1
- 238000003745 diagnosis Methods 0.000 description 1
- 201000010099 disease Diseases 0.000 description 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 1
- 210000002257 embryonic structure Anatomy 0.000 description 1
- 210000001161 mammalian embryo Anatomy 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 230000004660 morphological change Effects 0.000 description 1
- 230000003287 optical effect Effects 0.000 description 1
- 230000035935 pregnancy Effects 0.000 description 1
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Abstract
The invention belongs to the technical field of chromosome karyotype analysis, and particularly relates to a chromosome chimera identification and judgment method, a system and a chromosome karyotype analysis method, wherein the chromosome chimera identification and judgment method comprises the following steps: obtaining a chromosome karyotype chart; judging whether the chromosome is a chromosome chimera according to the chromosome karyotype chart; and the proportion of the chromosome chimera is obtained, so that the chromosome chimera can be intelligently and accurately identified, and a basis is provided for subsequent chimera treatment.
Description
Technical Field
The invention belongs to the technical field of chromosome karyotype analysis, and particularly relates to a chromosome chimera identification and judgment method and system and a chromosome karyotype analysis method.
Background
The chromosome karyotype analysis can effectively identify chromosome chimeras. Since an individual develops from a fertilized egg, he generally has only one cell line, i.e., only one karyotype. However, in the process of cleavage of fertilized eggs and cell division in the early development stage of embryos, if chromosome non-separation occurs, part of cells of an embryo are subjected to chromosome number or morphological change, so that an individual has several cell lines with different karyotypes at the same time, and the situation is called as chimera.
For example, the expression "45, X/46, XX" means that both karyotype cell lines are present in the individual. This indicates that there are two karyotypes in one individual, "46, XX" indicates that there are 23 normal pairs of 46 chromosomes including 2X sex chromosomes, "45, X" indicates that there are only 45 chromosomes but 1X sex chromosome less, and this is considered to be turner's syndrome, and the clinical setting will require termination of pregnancy and a third generation tube infant mode.
The recognition and judgment of chromosome chimeras can help in the diagnosis of diseases.
Therefore, there is a need to design a new method, system and method for chromosome chimera identification and determination and chromosome karyotype analysis based on the above technical problems.
Disclosure of Invention
The invention aims to provide a chromosome chimera identification and judgment method, a system and a chromosome karyotype analysis method.
In order to solve the above technical problems, the present invention provides a method for identifying and determining a chromosome chimera, comprising:
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.
Further, the method for obtaining the karyotype chart comprises the following steps:
metaphase chromosome split phase images are acquired to acquire several chromosome karyotype maps.
Further, 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.
Further, 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.
In a second aspect, the present invention also provides a method for 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.
Further, the method for judging whether the chromosome is a chromosome chimera according to the plurality of chromosome karyotype maps is suitable for adopting the chromosome chimera identification and judgment method to carry out identification and judgment on the chromosome chimera.
Further, the method for obtaining a plurality of chromosome karyotype maps 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.
Further, the method for karyotyping according to the kind of chimera comprises:
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.
In a third aspect, the present invention also provides a system for identifying and determining a chromosome chimera, including:
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.
The invention has the advantages that the invention obtains the karyotype chart; judging whether the chromosome is a chromosome chimera according to the chromosome karyotype chart; and the proportion of the chromosome chimera is obtained, so that the chromosome chimera can be intelligently and accurately identified, and a basis is provided for subsequent chimera treatment.
Additional features and advantages of the invention will be set forth in the description which follows, and in part will be obvious 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 written description and claims hereof as well as the appended drawings.
In order to make the aforementioned and other objects, features and advantages of the present invention comprehensible, preferred embodiments accompanied with figures are described in detail below.
Drawings
In order to more clearly illustrate the embodiments of the present invention or the technical solutions in the prior art, the drawings used in the description of the embodiments or the prior art will be briefly described below, and it is obvious that the drawings in the following description are some embodiments of the present invention, and other drawings can be obtained by those skilled in the art without creative efforts.
FIG. 1 is a flowchart of a method for identifying and determining a chromosome chimera according to the present invention;
FIG. 2 is a karyotype chart for 45, X according to the present invention;
FIG. 3 is a diagram of the karyotype of 46, XX according to the invention;
FIG. 4 is a flow chart of a karyotype analysis method according to the present invention;
FIG. 5 is a schematic block diagram of a chromosome chimera identification and judgment system according to the present invention.
Detailed Description
To make the objects, 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, and it is apparent that the described embodiments are some, but not all embodiments of the present invention. All other embodiments, which can be derived by a person skilled in the art from the embodiments given herein without making any creative effort, shall fall within the protection scope of the present invention.
Example 1
FIG. 1 is a flowchart of the method for identifying and determining a chromosome chimera according to the present invention.
As shown in fig. 1, this example 1 provides a method for identifying and determining a chromosome chimera, which includes: obtaining a chromosome karyotype chart; judging whether the chromosome is a chromosome chimera according to the chromosome karyotype chart; and the proportion of the chromosome chimera is obtained, so that the intelligent accurate identification of the chromosome chimera is realized, a basis is provided for subsequent chimera treatment, errors in the identification of the traditional doctor artificial chromosome chimera are avoided, and the proportion of the chromosome chimera can be accurately obtained.
In this embodiment, the method for obtaining the karyotype chart includes: obtaining metaphase chromosome split phase images of a single individual to obtain a plurality of chromosome karyotype images; for example, a prepared chromosome specimen slide (for example, a blood sample, amniotic fluid, villus, umbilical cord blood and the like are extracted to prepare a chromosome specimen slide) is observed or scanned by a german MetaSystems chromosome karyotype analysis workstation to obtain a metaphase chromosome split phase image, and then several chromosome karyotypes are directly obtained.
FIG. 2 is a karyotype chart for 45, X according to the present invention;
FIG. 3 is a diagram of the karyotype of 46, XX according to the invention.
In this embodiment, the method for determining whether the chromosome is a chromosome chimera according to the karyotype chart comprises the following steps: acquiring the total number of chromosomes in each chromosome karyotype graph, and judging whether the individuals are number abnormal chimeras or not according to the types of the total number of the chromosomes (judging the type number of the chromosome karyotypes according to the type number of the total number of the chromosomes), namely judging the individuals are the number abnormal chimeras when two or more types of the total number of the chromosomes exist; for example, as shown in FIGS. 2 and 3, if two karyotypes "45, X/46, XX" are present in each karyotype of an individual, the individual is judged to be a number-aberrant chimera.
In this embodiment, the method for obtaining the ratio of chromosome chimeras 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; obtaining the proportion of the chromosome chimera according to the proportion of the number of the chromosome karyotype graphs with the abnormal chromosome number in all the chromosome karyotype graphs; taking two chromosome karyotypes 45, X/46 and XX existing in each chromosome karyotype diagram of an individual as an example, acquiring the number of the chromosome karyotype diagrams of which the chromosome karyotypes are 45 and X in all the chromosome karyotype diagrams, wherein the proportion of the chromosome karyotype in all the chromosome karyotypes is the proportion of the chromosome chimera; the identification and judgment of chromosome chimera before chromosome karyotyping can increase the accuracy of later chromosome karyotyping.
Example 2
FIG. 4 is a flow chart of a karyotype analysis method according to the present invention.
As shown in fig. 4, this example 2 further provides a karyotype analysis method based on example 1, including: 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 according to the type of chimera.
In this embodiment, the method for determining whether a chromosome chimera is a chromosome chimera according to several karyotype maps is suitable for performing the chromosome chimera identification determination by using the chromosome chimera identification determination method described in embodiment 1.
In this embodiment, the method for obtaining several karyotype maps includes: preparing a cell chromosome specimen slide, and acquiring a metaphase chromosome split phase image through the observation slide to acquire a plurality of chromosome karyotype images, namely preparing the cell chromosome specimen slide (for example, extracting a blood sample, amniotic fluid, villus, umbilical cord blood and the like to prepare the cell chromosome specimen slide), and acquiring the metaphase chromosome split phase image through the observation slide; that is, the slide can be observed or scanned by a microscope (e.g., a microscope of different magnification, oil lens, etc., or directly through MetaSystems chromosome karyotyping workstation, germany) to obtain an image of the metaphase chromosome split phase, and thus several chromosome karyotypes can be directly obtained.
In this example, the method for karyotyping according to the kind of chimera comprises: when the chromosome chimera is judged, karyotyping is carried out on the karyotype chart corresponding to each chromosome total number (for example, when the chromosome chimera is chimeric of two chromosome karyotypes, karyotyping is carried out on both chromosome karyotypes); when it is judged to be a non-chromosomal chimera, the chromosome karyotype is analyzed (i.e., only one chromosome karyotype is present in all chromosome karyotype images, the chromosome karyotype is analyzed).
Example 3
FIG. 5 is a schematic block diagram of a chromosome chimera identification and judgment system according to the present invention.
As shown in fig. 5, in addition to embodiment 1, embodiment 3 also provides a system for identifying and determining a chromosome chimera, including: 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 a proportion obtaining module for obtaining the proportion of the chromosome chimera.
In this embodiment, the obtaining module obtains the chromosome karyotype chart, and the determining module determines whether the chromosome karyotype chart is a chromosome chimera according to the chromosome karyotype chart, and the method for obtaining the proportion of the chromosome chimera by the proportion obtaining module is described in detail in embodiment 1, and is not described in detail in this embodiment.
In conclusion, the invention obtains the karyotype chart; judging whether the chromosome is a chromosome chimera according to the chromosome karyotype chart; and the proportion of the chromosome chimera is obtained, so that the chromosome chimera can be intelligently and accurately identified, and a basis is provided for subsequent chimera treatment.
In the several embodiments provided in the present application, it should be understood that the disclosed system and method may be implemented in other ways. The system embodiments described above are merely illustrative, and for example, the flowchart and block diagrams in the figures illustrate the architecture, functionality, and operation of possible implementations of systems, methods and computer program products according to various embodiments of the present invention. In this regard, each block in the flowchart or block diagrams may represent a module, segment, or portion of code, which comprises one or more executable instructions for implementing the specified logical function(s). 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 shown 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 will also be noted that each block of the block diagrams and/or flowchart illustration, and combinations of blocks in the block diagrams and/or flowchart illustration, can be implemented by special purpose hardware-based systems which perform the specified functions or acts, or combinations of special purpose hardware and computer instructions.
In addition, the functional modules in the embodiments of the present invention may be integrated together to form an independent part, or each module may exist separately, or two or more modules may be integrated to form an independent part.
The functions, if implemented in the form of software functional modules and sold or used as a stand-alone product, may be stored in a computer readable storage medium. Based on such understanding, the technical solution of the present invention may be embodied in the form of a software product, which is stored in a storage medium and includes instructions for causing a computer device (which may be a personal computer, a server, or a network device) to execute all or part of the steps of the method according to the embodiments of the present invention. And the aforementioned storage medium includes: a U-disk, a removable hard disk, a Read-Only Memory (ROM), a Random Access Memory (RAM), a magnetic disk or an optical disk, and other various media capable of storing program codes.
In light of the foregoing description of the preferred embodiment of the present invention, many modifications and variations will be apparent to those skilled in the art without departing from the spirit and scope of the invention. The technical scope of the present invention is not limited to the content of the specification, and 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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