CN115206424A - Method, system, equipment and storage medium for identifying full sibling relationship - Google Patents
Method, system, equipment and storage medium for identifying full sibling relationship Download PDFInfo
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Abstract
The invention discloses a method for identifying a holomorphic relationship, which comprises the following steps: obtaining the genotype PQ of the identified person A and the allele frequencies P and Q corresponding to the alleles P and Q respectively, obtaining the genotype FG of the identified person B, and calculating the homomorphism relation index (FSI) of the identified person A and the identified person B by adopting the formula FSI = [0.25mpq +0.5 (aq + bnp)/y +0.25c ]/(mpq). The method simplifies the calculation formula of the holomorphic relationship index (FSI) under the condition of 10 different genotype combinations in the calculation part of the holomorphic relationship index in the technical Specification of biological holomorphic identification (SF/T0117-2021) into 1 function model, greatly reduces the judgment workload and is convenient for batch processing.
Description
Technical Field
The invention relates to the technical field of forensic material evidence identification, in particular to a method, a system, equipment and a storage medium for identifying a holomorphic relationship.
Background
A full sib, abbreviated FS, refers to multiple offspring individuals having the same biological father and mother (i.e., siblings, sisters, brothers, siblings, etc. of the same father and mother).
Identification of a homomorphic relationship, identification of full typing relationship, refers to a process of determining whether a homomorphic relationship exists between two disputed individuals by detecting a human genetic marker and analyzing according to a genetic rule.
The forensic material evidence identification process mainly comprises the following steps: 1. case acceptance and sample collection (blood, sperm spots or hair); DNA extraction (laboratory, obtaining the amount of DNA template required for subsequent detection); PCR amplification (PCR amplification instrument, using some STR locus primers combined by STR kit to amplify, i.e. copy, DNA template to the amount needed by electrophoresis); 4. capillary electrophoresis (genetic analyzer); 5. electrophoresis result typing (software); 6. calculating a full sibling relationship index; 7. forming an identification opinion; 8. the authentication script is written.
At present, the technical specification of the identification of the holomorphic relationship of the forensic physical evidence is "biological holomorphic identification technical specification" (SF/T0117-2021).
The problems existing in the prior art mainly comprise: in judicial practice, one case generally has at least 15 to 20 STR loci, and 40 to 50 loci in many cases, and tens of combinations are present, and tens of calculations are required, or hundreds of calculations are required if tens of cases are present in a batch. As the number of cases increases, the computational effort increases dramatically with the increase in STR loci detected. If the calculation is purely manual, the calculation is easy to make mistakes and is very labor-consuming.
Disclosure of Invention
The embodiment of the invention provides a method for identifying a holomorphic relationship, which comprises the following steps:
obtaining the allele frequencies P and Q corresponding to the genotype PQ and the alleles P and Q of the identified human A respectively;
acquiring genotype FG of the identified human B;
calculating the holomorphism relationship index FSI of the identified person A and the identified person B by adopting a formula (1):
FSI＝[0.25mpq+0.5(aq+bnp)/y+0.25c]/(mpq) (1)
calculating the value of each parameter of the formula (1) according to the following judgment conditions:
if the allele P of the identified person a is identical to the allele Q, i.e. P = Q, then m =1,n =0, otherwise m =2,n =1;
if allele F of identified person B is identical to allele G, i.e. F = G, then y =1, otherwise y =2;
a =1 if allele P of identified person a matches allele F or allele G of identified person B, i.e. P = F or P = G, otherwise a =0;
b =1 if allele Q of identified person a matches allele F or allele G of identified person B, i.e. Q = F or Q = G, otherwise B =0;
c =1 if allele P of identified person a matches allele F of identified person B, while allele Q of identified person a matches allele G of identified person B, i.e. P = F and Q = G, otherwise c =0;
and (3) judging whether the identified person A and the identified person B are in the homomorphic relation or not according to the homomorphic relation index FSI of the identified person A and the identified person B calculated according to the formula (1) and the biological homomorphic identification technical specification.
The invention also provides a system for identifying the holomorphic relationship, which comprises the following steps:
the gene acquisition module is used for acquiring the genotype PQ of the identified person A and the allele frequencies P and Q corresponding to the alleles P and Q respectively; acquiring genotype FG of the identified human B;
the homomorphic relation index calculating module is used for calculating the homomorphic relation index FSI of the identified person A and the identified person B by adopting a formula (1):
FSI＝[0.25mpq+0.5(aq+bnp)/y+0.25c]/(mpq) (1)
calculating the value of each parameter of the formula (1) according to the following judgment conditions:
if the allele P of the identified person a is identical to the allele Q, i.e. P = Q, then m =1,n =0, otherwise m =2,n =1;
if allele F of identified person B is identical to allele G, i.e. F = G, then y =1, otherwise y =2;
a =1 if allele P of identified person a matches allele F or allele G of identified person B, i.e. P = F or P = G, otherwise a =0;
b =1 if allele Q of identified person a matches allele F or allele G of identified person B, i.e. Q = F or Q = G, otherwise B =0;
c =1 if allele P of identified person a matches allele F of identified person B, while allele Q of identified person a matches allele G of identified person B, i.e. P = F and Q = G, otherwise c =0;
and the homonymy relationship judging module is used for judging whether the homonymy relationship between the identified person A and the identified person B is established according to the homonymy relationship index FSI of the identified person A and the identified person B calculated by the formula (1) and the biological homonymy identification technical specification.
The invention also provides a device for identifying and authenticating the full sibling relationship, which adopts a system for identifying the full sibling relationship and also comprises an input device, an output device, a memory, a processor and a communication part.
The present invention also provides a storage medium for identifying a homonymy relationship, on which a computer program is stored, the computer program being a homonymy relationship identification program, the computer program, when executed by a processor, implementing the steps of a method for identifying a homonymy relationship.
Compared with the prior art, the embodiment of the invention provides a method, a system, equipment and a storage medium for identifying the full sibling relationship, which have the following beneficial effects:
1. the calculation formula under the condition of 10 different genotype combinations in the whole sibling relation index calculation part in the technical specification of biological whole sibling identification (SF/T0117-2021) is simplified into 1 function model, and the judgment and calculation workload is greatly reduced.
2. The parameters of the function can be preset in a computer, and after the allele is input, the parameter index is automatically selected. The function can be realized by using common office software (such as EXCEL or WPS), and is convenient and easy to implement.
3. The function model developed by the patent can be used as a core algorithm, can be used for subsequently developing professional software by software developers, and can also be used for subsequently and autonomously developing mass processing software by forensic material evidence identification users through common office software (such as EXCEL or WPS).
Drawings
Fig. 1 is a flowchart of a method for identifying a homoeocellular relationship according to an embodiment of the present invention.
Detailed Description
The technical solutions in the embodiments of the present invention will be clearly and completely described below with reference to the drawings in the embodiments of the present invention, and it is obvious that the described embodiments are only a part of the embodiments of the present invention, and not all of the embodiments. 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.
Referring to fig. 1, the present patent is optimized with respect to a functional model (computational method). For the DNA typing result obtained in the previous detection link in the forensic physical evidence identification process, through the setting of related parameters, the calculation formula (see the above content) under the condition of 10 different genotype combinations in the holomorphic relationship index calculation part in the technical specification of biological holomorphic identification (SF/T0117-2021) is simplified into 1 function model for the holomorphic relationship index calculation (FSI value). The method comprises the following specific steps:
description of the symbols of the functional model:
PQ, the genotype of the identified human A (the allele frequencies are P and Q. The alleles P, Q may be the same or different);
FG, the genotype of identified human B (corresponding to allele frequencies f and g, however, this gene frequency was not used directly in this functional model);
the expression of genotypes (PQ, FG) may be the same or different for the 2 alleles constituting the genotype of the same individual at a given locus, the numerical values (representing the number of repeats of the STR allele repeat unit). When the values are different, the smaller value is arranged in front. For example, if the allele combination of an individual at a locus is 8 and 10, the result is expressed as 8/10; when the allele combinations were 8 and 8, the result was expressed as 8/8.
m, n, the genotype PQ of identified person a, if allele P is identical to Q (i.e., P = Q), then m =1,n =0, otherwise m =2,n =1;
y, genotype FG of identified human B, if allele F is identical to G (i.e. F = G), then y =1, otherwise y =2;
a, whether the allele P of the identified person a matches the allele F or the allele G of the identified person B, if there is one allele match (i.e. P = F or P = G), then a =1, otherwise a =0;
b, whether the allele Q of the identified person A matches the allele F or the allele G of the identified person B, if one allele is matched (i.e. Q = F or Q = G), then B =1, otherwise B =0;
c, genotype PQ of identified person A and genotype FG of identified person B, c =1 if allele P of identified person A matches allele F of identified person B (i.e. P = F), or c =0 otherwise.
The function model is summarized as 1:
FSI＝[0.25mpq+0.5(aq+bnp)/y+0.25c]/(mpq)
examples 1: it is assumed that at a locus, the genotype of identified person A is 8/8 (homozygote, which can also be expressed as 8) and the genotype of identified person B is 8/10. At this locus, allele 8 had a gene frequency of 0.175 and allele 10 had a gene frequency of 0.221. Then, m =1, n =0, y =2, a =1, b =1, c =0, and the function is (0.25 × 1 × 0.175+0.5 (1 × 0.175+1 × 0.175)/2 +0.25 × 0)/(1 × 0.175) =1.6788.
Example 2: it is assumed that at a locus, the genotype of identified person A is 8/10 (heterozygote) and the genotype of identified person B is 8/10 (heterozygote). At this locus, allele 8 has a gene frequency of 0.175 and allele 10 has a gene frequency of 0.221. Then, m =2, n =1, y =2, a =1, b =1, c =1, and the function is (0.25 × 2.175 × 0.221+0.5 (1 × 0.175+1 × 0.221)/2 +0.25 × 1)/(2 × 0.175 × 0.221) =4.7620.
Although the present invention has been described in detail with reference to the specific embodiments, it should be understood that various changes and modifications can be made by those skilled in the art without departing from the spirit and scope of the invention.
Claims (4)
1. A method for identifying a full sibling relationship, comprising:
obtaining the allele frequencies P and Q corresponding to the genotype PQ and the alleles P and Q of the identified human A respectively;
obtaining genotype FG of the identified person B;
calculating the holomorphic relation index FSI of the identified person A and the identified person B by adopting the formula (1):
FSI＝[0.25mpq+0.5(aq+bnp)/y+0.25c]/(mpq) (1)
calculating the value of each parameter of the formula (1) according to the following judgment conditions:
if the allele P of the identified person a is identical to the allele Q, i.e. P = Q, then m =1,n =0, otherwise m =2,n =1;
if allele F of identified person B is identical to allele G, i.e. F = G, then y =1, otherwise y =2;
a =1 if allele P of identified person a matches allele F or allele G of identified person B, i.e. P = F or P = G, otherwise a =0;
b =1 if allele Q of identified person a matches allele F or allele G of identified person B, i.e. Q = F or Q = G, otherwise B =0;
c =1 if allele P of identified person a matches allele F of identified person B, while allele Q of identified person a matches allele G of identified person B, i.e. P = F and Q = G, otherwise c =0;
and (2) judging whether the identified person A and the identified person B are in the full sibling relationship according to the full sibling relationship index FSI of the identified person A and the identified person B calculated by the formula (1), the full sibling relationship index FSI and the biological full sibling identification technical specification.
2. A system for identifying a homonymy relationship, comprising:
the gene acquisition module is used for acquiring the genotype PQ of the identified person A and the allele frequencies P and Q corresponding to the alleles P and Q respectively; obtaining genotype FG of the identified person B;
the homomorphic relation index calculating module is used for calculating the homomorphic relation index FSI of the identified person A and the identified person B by adopting a formula (1):
FSI＝[0.25mpq+0.5(aq+bnp)/y+0.25c]/(mpq) (1)
calculating the value of each parameter of the formula (1) according to the following judgment conditions:
if the allele P of the identified person a is identical to the allele Q, i.e. P = Q, then m =1,n =0, otherwise m =2,n =1;
if allele F of identified person B is identical to allele G, i.e. F = G, then y =1, otherwise y =2;
a =1 if allele P of identified person a matches allele F or allele G of identified person B, i.e. P = F or P = G, otherwise a =0;
b =1 if allele Q of identified person a matches allele F or allele G of identified person B, i.e. Q = F or Q = G, otherwise B =0;
c =1 if allele P of identified person a matches allele F of identified person B, while allele Q of identified person a matches allele G of identified person B, i.e. P = F and Q = G, otherwise c =0;
and the homomorphic relation judging module is used for judging whether the homomorphic relation between the identified person A and the identified person B is established according to the homomorphic relation index FSI of the identified person A and the identified person B calculated by the formula (1) and the biological homomorphic identification technical specification.
3. A homomorphic relationship authentication apparatus characterized by using a homomorphic relationship authentication system according to claim 2, further comprising an input device, an output device, a memory, a processor, and a communication section.
4. A storage medium for identifying a homonymy relationship, the storage medium having a computer program stored thereon, wherein the computer program is a homonymy relationship identification program, and the computer program is executed by a processor to implement the steps of a method for identifying a homonymy relationship according to claim 1.
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| CN105861668A (en) * | 2016-04-21 | 2016-08-17 | 昆明医科大学 | Forensic physical evidence paternity testing and individual identification parameter calculating method |
| CN108491691A (en) * | 2018-03-23 | 2018-09-04 | 河北医科大学 | Relationship iden- tification method and terminal device |
| CN109273046A (en) * | 2018-10-19 | 2019-01-25 | 上海晶准生物医药有限公司 | A kind of biology full sibs identification method based on probability statistics model |
| US20220028484A1 (en) * | 2020-07-21 | 2022-01-27 | Republic of Korea (National Forensic Service Director Ministry of Interior and Safety) | Multiplex PCR Kit for identifying human genotype profile using new combination of mini STRs and method for identifying human genotype profile using the same |
| WO2022047413A2 (en) * | 2020-08-31 | 2022-03-03 | Etalon Diagnostics | Systems and methods for producing or identifying non-human animals with a predetermined phenotype or genotype |
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Patent Citations (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN105861668A (en) * | 2016-04-21 | 2016-08-17 | 昆明医科大学 | Forensic physical evidence paternity testing and individual identification parameter calculating method |
| CN108491691A (en) * | 2018-03-23 | 2018-09-04 | 河北医科大学 | Relationship iden- tification method and terminal device |
| CN109273046A (en) * | 2018-10-19 | 2019-01-25 | 上海晶准生物医药有限公司 | A kind of biology full sibs identification method based on probability statistics model |
| US20220028484A1 (en) * | 2020-07-21 | 2022-01-27 | Republic of Korea (National Forensic Service Director Ministry of Interior and Safety) | Multiplex PCR Kit for identifying human genotype profile using new combination of mini STRs and method for identifying human genotype profile using the same |
| WO2022047413A2 (en) * | 2020-08-31 | 2022-03-03 | Etalon Diagnostics | Systems and methods for producing or identifying non-human animals with a predetermined phenotype or genotype |
Non-Patent Citations (1)
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| 李梅等: "复杂亲缘关系鉴定的研究进展" * |
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