CN113160892B - Mixed DNA typing genetic relationship determination method and system - Google Patents
Mixed DNA typing genetic relationship determination method and system Download PDFInfo
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- 230000002068 genetic effect Effects 0.000 title claims abstract description 95
- 238000000034 method Methods 0.000 title claims abstract description 29
- 108090000623 proteins and genes Proteins 0.000 claims abstract description 72
- 108700028369 Alleles Proteins 0.000 claims description 13
- 238000003205 genotyping method Methods 0.000 claims description 4
- 101150032520 STR gene Proteins 0.000 claims description 3
- 238000011840 criminal investigation Methods 0.000 abstract description 4
- 230000000694 effects Effects 0.000 description 2
- 239000000203 mixture Substances 0.000 description 2
- 241001465754 Metazoa Species 0.000 description 1
- 238000001514 detection method Methods 0.000 description 1
- 238000010586 diagram Methods 0.000 description 1
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
Abstract
The invention relates to a mixed DNA typing genetic relationship determination method, which comprises the following steps: combining genes in each locus of the mixed DNA typing to obtain a gene combination result; calculating the genetic relationship PI value of each gene combination according to the gene combination result and the STR locus value of the comparison person; calculating an average PI value according to the genetic relationship PI value of each gene combination; calculating an affinity RCP value according to the average PI value; the genetic relationship is determined according to the genetic relationship RCP value, so that the problem that the genetic comparison calculation cannot be carried out on the current mixed DNA typing is solved, and the role of the mixed DNA typing in criminal investigation is greatly improved.
Description
Technical Field
The invention relates to the technical field of genetic relationship determination, in particular to a method and a system for determining mixed DNA typing genetic relationship.
Background
With the rapid development of biotechnology, in judicial identification, DNA identification technology has been used as an indispensable evidence, and plays a very important role in identifying criminal suspects, identifying cadaver sources, identifying rare animals and plants, identifying crimes and the like. Meanwhile, genetic relationship identification plays an increasingly important role, namely, according to the basic principle of genetics, a modern DNA typing detection technology is adopted to comprehensively judge whether relatives, alternate generations or other genetic relationships exist among the individuals under disputes. Affinity relationships such as: father-son, isotactic brother, half sibling brother, tertile, grandson, ideas brother, and the like. However, genetic relationship identification can only be discriminated between two individuals, and mixed DNA typing and single individual cannot be computationally identified.
Therefore, there is a need in the art for a solution for identifying genetic relationships using mixed DNA typing.
Disclosure of Invention
The invention aims to provide a mixed DNA parting genetic relationship determination method and system, which are used for calculating PI values of loci of mixed DNA parting based on an ITO method and finally calculating the RCP value of a certain genetic relationship, so that the problem that the current mixed DNA parting cannot be subjected to genetic comparison calculation is solved.
In order to achieve the above object, the present invention provides the following solutions:
a method of mixed DNA typing affinity determination, the method comprising:
combining genes in each locus of the mixed DNA typing to obtain a gene combination result;
calculating the genetic relationship PI value of each gene combination according to the gene combination result and the STR locus value of the comparison person;
calculating an average PI value according to the genetic relationship PI value of each gene combination;
calculating an affinity RCP value according to the average PI value;
and determining the affinity according to the affinity RCP value.
Optionally, the calculating the genetic relationship PI value of each gene combination according to the gene combination result and the STR locus value of the alignment person specifically includes:
sequentially assuming two people to have various relationships;
and sequentially calculating PI values of various affinities by using various affinity PI value formula tables.
Optionally, the various genetic relationship PI value formulas are as follows:
wherein P is i 、P j Refers to the current genetic locus population genetic frequency, A i ，A j Referring to the different typing cases, i, j, k and r refer to the complete listing of possible cases of genotyping, in order to distinguish between the different alleles.
Optionally, the calculating the average PI value according to the genetic relationship PI value of each gene combination specifically includes:
calculating an average PI value according to an average PI value calculation formula, wherein the average PI value calculation formula is as follows: where PI represents an average PI value, n, m and o represent the number of gene combinations in each locus, and PIn, PIm and PIo represent the genetic relationship PI value of each gene combination, respectively, and k represents the number of loci.
Optionally, before calculating the average PI value according to the genetic relationship PI value of each gene combination, the method further includes:
judging the number of mixed people of the mixed DNA typing according to the number of locus alleles in the mixed DNA typing;
and discarding the PI value of the gene combination with the STR value completely mismatched according to the number of the mixed people.
Optionally, the calculating the genetic relationship RCP value according to the average PI value specifically includes:
calculating the genetic relationship RCP value by using a genetic relationship RCP value calculation formula, wherein the genetic relationship RCP value calculation formula is as follows: rcp=pi/(pi+1), where RCP represents the relationship RCP value and PI represents the average PI value.
Optionally, the determining the affinity according to the affinity RCP value specifically includes:
obtaining probabilities of various affinities by using an RCP distribution table;
when the probability of isotactic cells of RCP is greater than 99.99%, isotactic cells account for 66.48%, unrelated individuals account for 0%, and obvious differences are deduced to be isotactic cell relations;
when the probability of the RCP half sibling is more than 99.99%, the half sibling accounts for 1.52%, the unrelated individuals account for 0%, and obvious differences exist, and the relationship is inferred as half sibling;
when the probability of the RCP representing the brothers is in the range of 10% -90%, the probability of the RCP representing the brothers accounts for 82.87%, the probability of the irrelevant individuals accounts for 90%, the difference is not obvious, and the inference can not be inferred;
when the probability of the RCP secondary-hall brothers is in the range of 10% -90%, the secondary-hall brothers account for 99.84%, unrelated individuals account for 99.98%, and the difference is not obvious and cannot be inferred.
Optionally, the RCP distribution table is:
a hybrid DNA typing affinity determination system, the system comprising:
the gene combination unit is used for combining genes in each locus of the mixed DNA typing so as to obtain a gene combination result;
a genetic relationship PI value calculation unit for calculating the genetic relationship PI value of each gene combination according to the gene combination result and the STR gene locus value of the comparison person;
the average PI value calculation unit is used for calculating an average PI value according to the genetic relationship PI value of each gene combination;
a genetic relationship RCP value calculation unit, configured to calculate a genetic relationship RCP value according to the average PI value;
and the affinity determining unit is used for determining affinity according to the affinity RCP value.
Optionally, the system further comprises:
a mixed population number determination unit for determining a mixed population number of the mixed DNA typing according to the number of locus alleles in the mixed DNA typing;
and the PI value discarding unit is used for discarding the PI value of the gene combination with the STR value completely unmatched according to the number of people mixed.
According to the specific embodiment provided by the invention, the invention discloses the following technical effects:
the embodiment of the invention combines genes in each locus of the mixed DNA typing to obtain a gene combination result; calculating the genetic relationship PI value of each gene combination according to the gene combination result and the STR locus value of the comparison person; calculating an average PI value according to the genetic relationship PI value of each gene combination; calculating an affinity RCP value according to the average PI value; and determining the affinity according to the affinity RCP value. The PI value of each locus of the mixed DNA typing is calculated on the basis of the ITO method, the RCP value of a certain genetic relationship is calculated finally, and then the genetic relationship is determined, so that the problem that the genetic comparison calculation cannot be carried out on the current mixed DNA typing is solved, and the role of the mixed DNA typing in criminal investigation is greatly improved.
Drawings
In order to more clearly illustrate the embodiments of the present invention or the technical solutions in the prior art, the drawings that are needed in the embodiments will be briefly described below, and it is obvious that the drawings in the following description are only some embodiments of the present invention, and other drawings may be obtained according to these drawings without inventive effort for a person skilled in the art.
Fig. 1 is a control flow chart of a mixed DNA typing affinity determination method according to an embodiment of the present invention.
Fig. 2 is a block diagram of a mixed DNA typing affinity determination system according to an embodiment of the present invention.
Detailed Description
The following description of the embodiments of the present invention will be made clearly and completely with reference to the accompanying drawings, in which it is apparent that the embodiments described are only some embodiments of the present invention, but not all embodiments. All other embodiments, which can be made by those skilled in the art based on the embodiments of the invention without making any inventive effort, are intended to be within the scope of the invention.
The invention aims to provide a mixed DNA parting genetic relationship determination method and system, which are used for calculating PI values of loci of mixed DNA parting based on an ITO method and finally calculating the RCP value of a certain genetic relationship, so that the problem that the current mixed DNA parting cannot be subjected to genetic comparison calculation is solved, and the effect of the mixed DNA parting in criminal investigation is greatly improved.
In order that the above-recited objects, features and advantages of the present invention will become more readily apparent, a more particular description of the invention will be rendered by reference to the appended drawings and appended detailed description.
Embodiment one:
as shown in fig. 1, the embodiment provides a mixed DNA typing genetic relationship determining method, which is to calculate PI values of loci of mixed DNA typing based on an ITO method, and finally calculate RCP values of a genetic relationship, and the specific steps include:
s1, combining genes in each locus of the mixed DNA typing to obtain a gene combination result; all possible alleles of mixed DNA typing are combined. Such as: D3S1358 hybrid typing is: 15/16/17, vwa mix typing: 14/17/18, D16S539 mixture typing: 9/10/11/12, in combination with the following table:
s2, calculating the genetic relationship PI value of each gene combination according to the gene combination result and the STR gene locus value of the comparison person;
firstly, sequentially assuming two artificial relationships;
and then sequentially calculating PI values of various affinities by using various affinity PI value formula tables.
The various genetic relationship PI value formulas are shown below:
wherein P is i 、P j Refers to the current radicalBecause of locus population gene frequencies, pi and Pj in this embodiment refer to the current locus chinese han population gene frequencies, the frequencies of the genotypes in the following table:
A i ，A j refers to the situation of different types; i. j, k and r refer to the fact that the possible cases of genotyping the first and second individuals are all listed, in order to distinguish different alleles, and are substituted into corresponding formulas according to different cases, as shown in the following table:
as a specific embodiment, in this example, the possible genetic relationship PI value of each combination is calculated according to the comparison of the STR locus value and the mixed typing combination result, which is specifically shown in the following table:
s3, calculating an average PI value according to the genetic relationship PI value of each gene combination;
calculating an average PI value according to an average PI value calculation formula, wherein the average PI value calculation formula is as follows: where PI represents an average PI value, n, m and o represent the number of gene combinations in each locus, and PIn, PIm and PIo represent the genetic relationship PI value of each gene combination, respectively, and k represents the number of loci.
In order to ensure the accuracy of calculation, before calculating the average PI value, the PI value of the gene combination is also required to be screened and the data which are obviously not matched are discarded, and the specific steps are as follows:
judging the number of mixed people of the mixed DNA typing according to the number of locus alleles in the mixed DNA typing; at most two values for one locus allele of a single person, such as: D3S1358, 15/16, if more than four values are more than three people. If the mixed genotyping is more than three persons (including three persons), since each locus has a pair of alleles, it can be judged that there are several persons mixed according to the number of loci alleles, the mixed genotypes of two persons will not be more than four, the mixed three persons will not be more than six, and so on.
Discarding PI values of the gene combinations with completely mismatched STR values according to the number of the mixed people; and discarding the possible combined PI values which are completely unmatched with the STR values, wherein the possible combined PI values do not participate in calculation in an average PI value formula, and the situation of discarding is shown in the following table.
S4, calculating an affinity relationship RCP value according to the average PI value;
calculating the genetic relationship RCP value by using a genetic relationship RCP value calculation formula, wherein the genetic relationship RCP value calculation formula is as follows: rcp=pi/(pi+1), where RCP represents the relationship RCP value and PI represents the average PI value.
S5, determining the affinity according to the affinity RCP value.
Obtaining probabilities of various affinities by using an RCP distribution table;
when the probability of isotactic cells of RCP is greater than 99.99%, isotactic cells account for 66.48%, unrelated individuals account for 0%, and obvious differences are deduced to be isotactic cell relations; when the RCP-FS is less than 99.99%, the isotactic individuals and the irrelevant individuals are partially overlapped with a certain difference.
Wherein RCP-FS refers to RCP values of brothers of the isotactic, and the designations of the various relationships are shown in the following table:
when the probability of the RCP half sibling is more than 99.99%, the half sibling accounts for 1.52%, the unrelated individuals account for 0%, and obvious differences exist, and the relationship is inferred as half sibling; when the RCP-HS is less than 99.99%, the two groups overlap with a certain difference.
When the probability of the RCP representing the brothers is in the range of 10% -90%, the probability of the RCP representing the brothers accounts for 82.87%, the probability of the irrelevant individuals accounts for 90%, the difference is not obvious, and the inference can not be inferred;
when the probability of the RCP secondary-hall brothers is in the range of 10% -90%, the secondary-hall brothers account for 99.84%, unrelated individuals account for 99.98%, and the difference is not obvious and cannot be inferred.
The RCP distribution table is:
as an optional implementation manner, the embodiment encapsulates the calculation process into a WebService interface by using a programming language according to the above steps, calculates the affinity PI and RCP values according to the comparison person STR information and the mixed typing STR information, and returns the result.
Referring to fig. 2, the present embodiment further provides a mixed DNA typing affinity determination system, which includes:
a gene combination unit M1 for combining genes in each locus of the mixed DNA typing to obtain a gene combination result;
a genetic relationship PI value calculation unit M2 configured to calculate a genetic relationship PI value of each genetic combination according to the result of the genetic combination and the STR locus value of the alignment person;
an average PI value calculating unit M3, configured to calculate an average PI value according to the genetic relationship PI value of each gene combination;
a genetic relationship RCP value calculating unit M4, configured to calculate a genetic relationship RCP value according to the average PI value;
and the affinity determining unit M5 is used for determining affinity according to the affinity RCP value.
As an alternative embodiment, in order to ensure accuracy of the calculation, the mixed DNA typing affinity determination system provided in this embodiment further includes:
a mixed population number determination unit for determining a mixed population number of the mixed DNA typing according to the number of locus alleles in the mixed DNA typing;
and the PI value discarding unit is used for discarding the PI value of the gene combination with the STR value completely unmatched according to the number of people mixed.
According to the mixed DNA typing genetic relationship determination method provided by the embodiment of the invention, genes in each locus of mixed DNA typing are combined to obtain a gene combination result; calculating the genetic relationship PI value of each gene combination according to the gene combination result and the STR locus value of the comparison person; calculating an average PI value according to the genetic relationship PI value of each gene combination; calculating an affinity RCP value according to the average PI value; and determining the affinity according to the affinity RCP value. The PI value of each locus of the mixed DNA typing is calculated on the basis of the ITO method, the RCP value of a certain genetic relationship is calculated finally, and then the genetic relationship is determined, so that the problem that the genetic comparison calculation cannot be carried out on the current mixed DNA typing is solved, and the role of the mixed DNA typing in criminal investigation is greatly improved.
For the system disclosed in the embodiment, since it corresponds to the method disclosed in the embodiment, the description is relatively simple, and the relevant points refer to the description of the method section.
The principles and embodiments of the present invention have been described herein with reference to specific examples, the description of which is intended only to assist in understanding the methods of the present invention and the core ideas thereof; also, it is within the scope of the present invention to be modified by those of ordinary skill in the art in light of the present teachings. In view of the foregoing, this description should not be construed as limiting the invention.
Claims (9)
1. A method for determining the genetic relationship of a mixed DNA typing, the method comprising:
combining genes in each locus of the mixed DNA typing to obtain a gene combination result;
calculating the genetic relationship PI value of each gene combination according to the gene combination result and the STR locus value of the comparison person;
calculating an average PI value according to the genetic relationship PI value of each gene combination;
calculating an affinity RCP value according to the average PI value;
determining the affinity according to the affinity RCP value;
the calculating the average PI value according to the genetic relationship PI value of each gene combination specifically comprises the following steps:
calculating an average PI value according to an average PI value calculation formula, wherein the average PI value calculation formula is as follows:
wherein PI represents an average PI value, n, m and o represent the number of gene combinations in each locus, PIn, PIm and PIo represent the genetic relationship PI value of each gene combination, and k representsThe number of loci is shown.
2. The method for determining the genetic relationship of mixed DNA typing according to claim 1, wherein the calculating the genetic relationship PI value of each gene combination based on the gene combination result and the STR locus value of the alignment person specifically comprises:
sequentially assuming two people to have various relationships;
and sequentially calculating PI values of various affinities by using various affinity PI value formula tables.
3. The method for determining the genetic relationship of mixed DNA typing according to claim 2, wherein the various genetic relationship PI value formulas are as follows:
wherein P is i 、P j Refers to the current genetic locus population genetic frequency, A i ，A j Referring to the different typing cases, i, j, k and r refer to the complete listing of possible cases of genotyping, in order to distinguish between the different alleles.
4. The method for determining the genetic relationship of mixed DNA typing according to claim 1, further comprising, before calculating the average PI value from the genetic relationship PI values of each of the gene combinations:
judging the number of mixed people of the mixed DNA typing according to the number of locus alleles in the mixed DNA typing;
and discarding the PI value of the gene combination with the STR value completely mismatched according to the number of the mixed people.
5. The method for determining the genetic relationship of mixed DNA typing according to claim 1, wherein the calculating the genetic relationship RCP value according to the average PI value specifically comprises:
calculating the genetic relationship RCP value by using a genetic relationship RCP value calculation formula, wherein the genetic relationship RCP value calculation formula is as follows: rcp=pi/(pi+1), where RCP represents the relationship RCP value and PI represents the average PI value.
6. The method for determining the genetic relationship of mixed DNA typing according to claim 1, wherein the determining the genetic relationship according to the genetic relationship RCP value specifically comprises:
obtaining probabilities of various affinities by using an RCP distribution table;
when the probability of isotactic cells of RCP is greater than 99.99%, isotactic cells account for 66.48%, unrelated individuals account for 0%, and obvious differences are deduced to be isotactic cell relations;
when the probability of the RCP half sibling is more than 99.99%, the half sibling accounts for 1.52%, the unrelated individuals account for 0%, and obvious differences exist, and the relationship is inferred as half sibling;
when the probability of the RCP representing the brothers is in the range of 10% -90%, the probability of the RCP representing the brothers accounts for 82.87%, the probability of the irrelevant individuals accounts for 90%, the difference is not obvious, and the inference can not be inferred;
when the probability of the RCP secondary-hall brothers is in the range of 10% -90%, the secondary-hall brothers account for 99.84%, unrelated individuals account for 99.98%, and the difference is not obvious and cannot be inferred.
7. The method for determining the genetic relationship of mixed DNA typing according to claim 6, wherein the RCP profile is:
8. a mixed DNA typing affinity determination system, the system comprising:
the gene combination unit is used for combining genes in each locus of the mixed DNA typing so as to obtain a gene combination result;
a genetic relationship PI value calculation unit for calculating the genetic relationship PI value of each gene combination according to the gene combination result and the STR gene locus value of the comparison person;
the average PI value calculation unit is used for calculating an average PI value according to the genetic relationship PI value of each gene combination;
a genetic relationship RCP value calculation unit, configured to calculate a genetic relationship RCP value according to the average PI value;
a relationship determination unit configured to determine a relationship according to the relationship RCP value;
the calculating the average PI value according to the genetic relationship PI value of each gene combination specifically comprises the following steps:
calculating an average PI value according to an average PI value calculation formula, wherein the average PI value calculation formula is as follows:
where PI represents an average PI value, n, m and o represent the number of gene combinations in each locus, and PIn, PIm and PIo represent the genetic relationship PI value of each gene combination, respectively, and k represents the number of loci.
9. The mixed DNA typing affinity determination system of claim 8, further comprising:
a mixed population number determination unit for determining a mixed population number of the mixed DNA typing according to the number of locus alleles in the mixed DNA typing;
and the PI value discarding unit is used for discarding the PI value of the gene combination with the STR value completely unmatched according to the number of people mixed.
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