CN115148282A - Method, system, equipment and storage medium for identifying conjuncted paternity - Google Patents

Method, system, equipment and storage medium for identifying conjuncted paternity Download PDF

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CN115148282A
CN115148282A CN202211019844.1A CN202211019844A CN115148282A CN 115148282 A CN115148282 A CN 115148282A CN 202211019844 A CN202211019844 A CN 202211019844A CN 115148282 A CN115148282 A CN 115148282A
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detected
paternity
allele
child
male
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吴淑珍
蒋庆连
蒋欢畅
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Wenzhou Medical University
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Wenzhou Medical University
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    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection

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Abstract

The invention discloses a diad paternity identification method, which comprises the following steps: acquiring the genotype PQ of the child and the allele frequencies P and Q corresponding to the alleles P and Q respectively, acquiring the genotype FG of the detected male (or the detected female), calculating the value of each parameter of the formula according to the judgment condition, and calculating the paternity index of the child and the detected male (or the detected female) by adopting the formula PI = (aq + bnp)/(xyppq). The method uniformly simplifies a calculation formula under the condition of combining 5 types of different genotypes in a diad paternity test part in 'paternity test technical specification' (GB/T37223-2018) into 1 function model, greatly reduces judgment and calculation workload, and is convenient for batch processing. The diad paternity identification method is calculated according to the situation of meeting the Mendelian genetic rule, and the situation of mutation is not taken into consideration.

Description

Method, system, equipment and storage medium for identifying conjuncted paternity
Technical Field
The invention relates to the technical field of forensic physical evidence identification, in particular to a method, a system, equipment and a storage medium for diad paternity identification.
Background
The forensic evidence identification is to solve personal identification (personal identification) and paternity testing (personal testing) in judicial practice. And the individual identification is to take the same identification theory as a guiding principle, scientifically identify the genetic marker of the material to be detected of the physical evidence and judge whether the material to be detected of the physical evidence appearing twice or more before and after belongs to the same individual according to the individual characteristics. The identification of individual recognition concludes 2 classes: support that both samples are from the same individual, or, exclude that both samples are from the same individual. The paternity test is to judge the blood relationship between two bodies (parent and offspring) by detecting genetic markers and analyzing according to genetic rules. The identification conclusion of paternity test is of 2 types: supporting the biological father (mother) of the detected male (woman) as a child, or excluding the biological father (mother) of the detected male (woman) as a child.
The theories on which forensic physical evidence is identified are mainly the genetic rules and statistical principles.
The genetic rules are as follows: mendelian's Law (including the Mendelian separation law and the Mendelian liberty combination law). Mendelian separation law: genes in somatic cell nuclei occur in pairs and determine the genetic traits of the organism, and when germ cells form gametes by meiosis, the paired alleles segregate from each other and enter different gametes, respectively. Each gamete contains only one of the parent pair of genes, and independent transmission of different genetic traits is achieved. Mendelian's free combination law, in the process of gene transfer, non-alleles at different loci freely combine, randomly pair and have equal chance in the process of forming gametes, and thus, the genotypes of filial generations are formed. Briefly, under normal genetic conditions, the progeny must have 1 allele at a locus on the chromosome from its parent and 1 from its mother, according to Mendelian's law of inheritance. Except for the case of mutation.
Population genetics is the subject of studying the genetic composition structure and its evolution law of a population, arises from genetics and evolutionary theory, and is the combination of Mendelian genetic law and mathematical statistics. The population genetic structure refers to the type and frequency of genes and genotypes in the mendelian population. Allele frequency, refers to the number of a certain allele in a population as a percentage of the total number of all alleles at that locus. The sum of the frequencies of all alleles should be 1, no matter how many alleles there are in a locus.
In the judicial appraisal practice, there are two fields of criminals and civil affairs in the situation that forensic material evidence appraisal is needed. The criminal field, mainly as follows: in the criminal case, road traffic accident, disaster accident or air accident, blood or blood trace, semen or seminal stain, hair or human tissue and the like are left on the scene, and the source of the blood or blood trace, semen or seminal stain, hair or human tissue and the like needs to be identified. The civil field mainly comprises the following steps: family registration, birth certification registration, notarization, property inheritance, privates and children suspicion, relatives searching and the like, blood, oral swabs or hairs of parties are required to be collected, whether a parent-born blood relationship exists between a parent and a child, whether a grandparent-grandparent relationship exists between two bodies, whether a sibling relationship exists between the two bodies, whether the two bodies come from the same father line, and the like are identified.
The forensic material evidence identification process mainly comprises the following steps: 1. case acceptance and sample collection (blood, fine spots or hair); DNA extraction (laboratory, obtaining the amount of DNA template required for subsequent testing); PCR amplification (PCR amplification instrument, using specific STR locus primers of STR kit combination to amplify or copy DNA template to reach the amount required by electrophoresis); 4. capillary electrophoresis (genetic analyzer); 5. electrophoresis result typing (software); 6. calculating an paternity index; 7. forming an appraisal opinion; 8. and (5) writing an identification document.
At present, the technical specification of the paternity test basis of the forensic material evidence is 'paternity test technical specification' (GB/T37223-2018).
At present, each judicial appraisal institution carries out forensic material evidence appraisal, and has manual calculation and software calculation for paternity index calculation. Some reagent vendors will provide PI value calculation small software, but the applicability and accuracy are different. From the user's perspective, these applets have the following drawbacks: (1) Generally, only 1 pair of samples can be processed at one time, and large-batch detection results cannot be processed simultaneously; (2) Some calculation software needs to input original data of alleles manually, and the workload is still large; (3) The small calculation software provided by a reagent provider belongs to additional value-added services, generally has some defects in personalized requirements, and is not good in user experience; (4) Because the user is unaware of their technical kernel, no further modifications to the software can be made, resulting in limited efficiency improvements.
Disclosure of Invention
The embodiment of the invention provides a diad paternity identification method, which comprises the following steps:
acquiring the genotype PQ of a child and the allele frequencies P and Q corresponding to the allele P and Q respectively;
acquiring the genotype FG of a detected male or a detected female;
the paternity index of a child and a detected man or a detected woman is calculated using formula (1) under the condition that Mendelian inheritance rule is satisfied, namely, gene mutation is not considered:
PI=(aq+bnp)/(xypq) (1)
calculating the value of each parameter of the formula (1) according to the following judgment conditions:
if the child's allele P is the same as Q, i.e., P = Q, x =1,n =0; otherwise, x =2,n =1;
if the detected male or detected female allele F is identical to G, i.e. F = G, then y =1; otherwise, y =2;
a =1 if the child's allele P matches the detected male or detected female allele F or G, i.e. P = F or P = G; otherwise, a =0;
b =1 if the child's allele Q matches the detected male or detected female allele F or G, i.e. Q = F or Q = G; otherwise, b =0;
and judging the paternity relationship between the child and the detected male or the detected female according to the paternity index and the paternity identification technical specification.
The invention also provides a diad paternity test system, which is characterized by comprising the following components:
the genotype acquisition module is used for acquiring the genotype PQ of the child and the allele frequencies P and Q corresponding to the alleles P and Q respectively; acquiring the genotype FG of the detected male or the detected female;
and the paternity index calculation module is used for calculating the paternity indexes of the children and the detected men or the detected women by adopting the formula (1) under the condition of meeting the Mendelian genetic law, namely not considering the gene mutation:
PI=(aq+bnp)/(xypq) (1)
calculating the value of each parameter of the formula (1) according to the following judgment conditions:
if the child's allele P is the same as Q, i.e., P = Q, x =1,n =0; otherwise, x =2,n =1;
if the detected male or detected female allele F is identical to G, i.e. F = G, then y =1; otherwise, y =2;
a =1 if the child's allele P matches the detected male or detected female allele F or G, i.e. P = F or P = G; otherwise, a =0;
b =1 if the child's allele Q matches the detected male or detected female allele F or G, i.e. Q = F or Q = G; otherwise, b =0;
and the paternity judging module is used for judging the paternity relationship between the child and the detected male or the detected female according to the paternity index and the paternity identification technical specification.
A twin paternity test system is adopted, and the twin paternity test system further comprises an input device, an output device, a memory, a processor and a communication part.
The present invention also provides a storage medium for diad paternity testing, on which a computer program is stored, the computer program being a program for diad paternity testing, the computer program, when executed by a processor, implementing the steps of a method for diad paternity testing.
The embodiment of the invention provides a diad familiarity identification method, which has the following beneficial effects compared with the prior art:
1. the diad paternity test method disclosed by the patent unifies and simplifies a calculation formula under the condition of 5 different genotypes of a diad paternity test part in paternity test technical specification (GB/T37223-2018) into 1 function model, so that the judgment and calculation workload is greatly reduced.
2. The diad personal authentication method disclosed by the patent has good adaptability in the use aspect, is easy to accept by forensic physical evidence authentication technicians in concept, can be realized on common office software (such as EXCEL or WPS), and is convenient and easy to implement.
3. The diad personal authentication method disclosed 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 independently developing mass processing software by forensic physical evidence authentication technicians through common office software (such as EXCEL or WPS).
Drawings
Fig. 1 is a flowchart of a method for diad paternity testing 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 material evidence identification process, a calculation formula (see the content) under the condition of different genotype combinations of 5 types in the diad paternity identification part in the paternity identification technical specification (GB/T37223-2018) is simplified into 1 function model for paternity index calculation (PI value) through the setting of related parameters. The method comprises the following specific steps:
description of symbols of the function model:
PQ, the genotype of the child (P, Q correspond to allele frequencies P and Q, respectively).
FG, genotype of the tested male (or tested female) (allele frequencies F and G for F and G, respectively, however, are not used 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.
x, n, allelic combination case for the child genotype PQ, if alleles P and Q are identical (i.e. P = Q, genotype is homozygous), x =1, n =0; otherwise, x =2,n =1.
y, the allelic combination of the male (or female) genotype FG being tested, if the alleles F and G are identical (i.e., F = G, genotype homozygous), y =1; otherwise, y =2.
a, the match of the child's allele P to the allele F or G of the male (or female) being tested, a =1 if P matches F (P = F), or P matches G (P = G); otherwise, a =0.
b, matching of child's allele Q to the allele F or G of the male (or female) being tested, b =1 if Q matches F (Q = F), or Q matches G (Q = G); otherwise, b =0.
Example 1:
it is assumed that at a locus, the child genotype is 8/8 (homozygous, also denoted as 8) and the parent genotype tested 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, x =1, n =0, y =2, a =1, b =0, and the function is (1 × 0.175+0 × 0.175)/(1 × 2 × 0.175) =2.8571.
Example 2:
it is assumed that at a locus, the child genotype is 8/10 (heterozygote) and the detected parent genotype 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 x =2,n =1, y =2, a =1, b =1, and the function is (1 × 0.221+1 × 0.175)/(2 × 0.221 × 0.175) =2.5598.
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 diad paternity testing, comprising:
acquiring the genotype PQ of a child and the allele frequencies P and Q corresponding to the alleles P and Q respectively;
acquiring the genotype FG of the detected male or the detected female;
the paternity index of the child and the male or female to be tested is calculated using formula (1) under the condition that the Mendelian inheritance rule is satisfied, i.e. the genetic mutation is not considered:
PI=(aq+bnp)/(xypq) (1)
calculating the value of each parameter of the formula (1) according to the following judgment conditions:
if the child's allele P is the same as Q, i.e., P = Q, x =1,n =0; otherwise, x =2,n =1;
if the detected male or detected female allele F is identical to G, i.e. F = G, then y =1; otherwise, y =2;
a =1 if the child's allele P matches the detected male or detected female allele F or G, i.e. P = F or P = G; otherwise, a =0;
b =1 if the child's allele Q matches the detected male or detected female allele F or G, i.e. Q = F or Q = G; otherwise, b =0;
and judging the paternity relationship between the child and the detected male or the detected female according to the paternity index and the paternity identification technical specification.
2. A twin paternity test system, comprising:
the genotype acquisition module is used for acquiring the genotype PQ of the child and the allele frequencies P and Q corresponding to the alleles P and Q respectively; acquiring the genotype FG of the detected male or the detected female;
the paternity index calculation module is used for calculating the paternity indexes of the children and the detected men or the detected women by adopting a formula (1) under the condition of meeting Mendelian genetic rules, namely not considering gene mutation:
PI=(aq+bnp)/(xypq) (1)
calculating the value of each parameter of the formula (1) according to the following judgment conditions:
if the child's allele P is the same as Q, i.e., P = Q, x =1,n =0; otherwise, x =2,n =1;
if the detected male or detected female allele F is identical to G, i.e. F = G, then y =1; otherwise, y =2;
a =1 if the child's allele P matches the detected male or detected female allele F or G, i.e. P = F or P = G; otherwise, a =0;
b =1 if the child's allele Q matches the detected male or detected female allele F or G, i.e. Q = F or Q = G; otherwise, b =0;
and the paternity judging module is used for judging the paternity relationship between the child and the detected male or the detected female according to the paternity index and the paternity identification technical specification.
3. A couple paternity testing apparatus, characterized in that a couple paternity testing system as claimed in claim 2 is used, further comprising an input device, an output device, a memory, a processor and a communication section.
4. A storage medium for diad paternity testing, having a computer program stored thereon, wherein the computer program is a program for diad paternity testing, which when executed by a processor, performs the steps of a method for diad paternity testing as claimed in claim 1.
CN202211019844.1A 2022-08-24 2022-08-24 Method, system, equipment and storage medium for identifying conjuncted paternity Pending CN115148282A (en)

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Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN102982222A (en) * 2011-09-02 2013-03-20 司法部司法鉴定科学技术研究所 Simple relatedness index acquiring method on condition of no mutation
CN107609343A (en) * 2017-08-14 2018-01-19 广州市圣鑫生物科技有限公司 Relationship iden- tification method, system, computer equipment and readable storage medium storing program for executing
CN107633160A (en) * 2017-08-14 2018-01-26 广州市圣鑫生物科技有限公司 Triplet paternity test method, system, computer equipment and readable storage medium storing program for executing
CN107748837A (en) * 2017-09-18 2018-03-02 安徽工程大学 A kind of computational methods of the DNA identification paternity indexs comprising gene mutation

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN102982222A (en) * 2011-09-02 2013-03-20 司法部司法鉴定科学技术研究所 Simple relatedness index acquiring method on condition of no mutation
CN107609343A (en) * 2017-08-14 2018-01-19 广州市圣鑫生物科技有限公司 Relationship iden- tification method, system, computer equipment and readable storage medium storing program for executing
CN107633160A (en) * 2017-08-14 2018-01-26 广州市圣鑫生物科技有限公司 Triplet paternity test method, system, computer equipment and readable storage medium storing program for executing
CN107748837A (en) * 2017-09-18 2018-03-02 安徽工程大学 A kind of computational methods of the DNA identification paternity indexs comprising gene mutation

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