KR20130077658A - System for parentage analysis using dna data from diploid single-locus codominant genetic markers and method thereof - Google Patents

System for parentage analysis using dna data from diploid single-locus codominant genetic markers and method thereof Download PDF

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KR20130077658A
KR20130077658A KR1020110146492A KR20110146492A KR20130077658A KR 20130077658 A KR20130077658 A KR 20130077658A KR 1020110146492 A KR1020110146492 A KR 1020110146492A KR 20110146492 A KR20110146492 A KR 20110146492A KR 20130077658 A KR20130077658 A KR 20130077658A
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한면수
이양한
김남예
김욱
조재형
김기철
구교찬
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대한민국(관리부서:행정안전부 국립과학수사연구원장)
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Abstract

Disclosed are a paternity verification system and method using genetic analysis to implement a subordinate index calculation algorithm for paternity to ensure reliability and accuracy of paternity verification.
The paternity verification system using the disclosed gene analysis includes a genetic information receiver for receiving an allele test result from a genetic test equipment; Genetic analysis to extract paternity verification algorithm stored in internal memory and extract paternity and kinship probability for paternity and kinship relationship by matching the received allele test result according to the extracted paternity verification algorithm Wealth; Paternity / relationship determination unit for determining paternity and kinship relations based on paternity probability and kinship probability extracted from the genetic analysis unit; And a blood relationship test report generating unit for generating a blood relationship test report based on a result of paternity and blood relationship judgment determined by the parent / kin relationship test unit.

Description

System for parentage analysis using DNA data from diploid single-locus codominant genetic markers and method

The present invention relates to a paternity verification system and method using DNA (DNA) analysis, and more specifically, to implement a subordinate index calculation algorithm for paternity identification gene to ensure the reliability and accuracy of paternity verification The present invention relates to a paternity verification system using analysis and a method thereof.

Recently, genetic analysis data of missing persons, deaths, and lost children have been continuously increasing. In addition to scientific investigation, there is a need for scientific verification of personal identification and paternity in a wide range of fields, from social and legal issues to the medical field.

Currently, internationally validated DNA analysis data, particularly paternity analysis systems using STR markers (Short Tandem Repeat Marker), are used in various fields.

Herein, the gene refers to a factor that causes expression of individual genetic traits of an organism. Genes are arranged in a certain order and are responsible for transferring genetic information from parents to offspring through germ cells. The body of the gene is DNA, and it plays a role in mediating most chemical reactions in the body by instructing the synthesis of proteins and the types of proteins required for synthesis. In other words, program the time and place so that the components of cells or tissues can be generated in sequence in DNA, determine the activity of the organism through the life history of the organism, and genetic information, which is the information necessary to determine the uniqueness of the organism. The part that stores is a gene.

British geneticist Alec Jeffreys has found a gene that repeats a series of 16 nucleotide sequences in human DNA without transgenes. This repeat is called Variable Number of Tandem Repeats (VNTR). The number of repeats of this sequence varies from person to person, revealing that it can be used to identify individuals. Jeffreys first used the term 'DNA Fingerprint' in light of the fact that the polymorphism of the VNTR is similar to that of different human fingerprints. Due to the characteristics of these genes, the act of analyzing chromosomes and genes from test objects such as blood, hair, and saliva for the purpose of individual identification and examination of specific diseases or predispositions is called 'genetic testing'. In particular, the result of analyzing the part of the gene that does not contain genetic information for the purpose of personal identification is 'gene information'.

After Jeffreys uncovered polymorphisms in human genes and devised a way to identify them, criminal investigations take a step further. He also used this method to actually solve the rape murder case and prove its usefulness.

However, Jeffreys' genetic analysis has not been universalized due to technical problems. However, subsequent development of various analytical techniques has resulted in attempts to identify individuals using polymorphisms in human genes.

The first method used to identify gene polymorphism for personal identification purposes was the Restriction Fragment Length Polymorphism (RFLP) method introduced by Wyman and White in 1980. This method uses Restriction Enzyme (RE), electrophoresis, and Southern blotting. First, the human gene is cut with a restriction enzyme called EcoRI, and it is then used as a 'detector'. It is a method of attaching to a restriction enzyme treated subject's gene. One of the genes in humans is a specific site that binds to the probe, and this is a way to identify whether they are the same, as it reveals that each person is different. According to the type of inspector, it is divided into RFLP method by single-seat prober and RFLP method by multi-seat prober.

This method requires a large amount of samples that are not deformed, the test method is difficult, costly and time-consuming, and standardizes the analysis results. Problems such as difficulty in doing so have been pointed out, and it is not currently used for examining evidence for criminal investigation purposes.

In 1985, Saiki et al. Developed a method to amplify a specific region of the human gene outside the human body using an enzyme called Taq polymerase and named it Polymerase Chain Reation (PCR). When primers and nucleotides (nucleotides, dNTPs), a gene synthesis material, are assigned to genes and the temperature is appropriately changed, specific regions of the genes increase at a very high rate. The ability to amplify specific regions of genes in vitro has led to breakthroughs in gene research in many fields. In particular, the forensic sample is often dealt with, but the quantitative limitation of the sample can be overcome so that the sample can be inspected even if the test result has not been obtained before, even if the sample is corrupt. . The genotype is determined by simply comparing the size of the PCR amplification product with electrophoresis, and this technique is called amplification product polymorphism (Amp-FLP).

The gene used in the PCR method is the STR gene, which is present on the autosomal chromosome and repeats 2 to 4 bases, and is used for individual identification because the number of repetitions varies from individual to individual. In addition, since the STR locus on the autosomal is inherited from each parent, it can be used for identification as well as individual identification. On the other hand, the STR locus also exists in the sex chromosome. In this case, Y-STR can be used to analyze the family relationship of the father.

Although PCR analysis method may point out a problem in which an error occurs due to undesired amplification of sequences when less than one million other DNAs are contained due to contamination of data, simplicity of procedure, short analysis time and high analysis sensitivity. Due to its advantages, it is used in the field of criminal justice in Germany, Japan and Korea.

Next, mitochondrial DNA (mt-DNA) analysis, unlike the existing method is to analyze the DNA present in the mitochondria existing outside the nucleus. Unlike nuclear DNA, this mitochondrial DNA is inherited only from the mother's line, which is used for identification in the case of siblings only. Because it has a large number of copies in one cell and a small circular gene, It is mainly used for analysis of samples that are difficult or impossible to analyze STR such as old or deteriorated samples such as ashes, hair or nails without hair roots.

In order to analyze genetic information, DNA samples need to be taken. There are many ways to collect DNA. As a method of collecting DNA samples for medical purposes or paternity, blood sampling and tissue extraction are mainly used. Genetic investigation procedures for criminal investigations are generally the core of genetic identification, which involves first obtaining evidence, separating DNA from the evidence, processing it for analysis, and reading the results.

In order to identify individuals using polymorphism of genes, one must first obtain a clean gene image from a sample and obtain a control gene image to compare with. The clean genetic image depends on the quality and quantity of the genes extracted from the sample, so care must be taken to collect the evidence so that the most genes can be extracted, and the collected evidence is kept to prevent further genetic alteration until the actual test is performed. Should be careful. To collect DNA evidence from blood and residual blood at the site of the victim or victims, care must be taken as the blood is left undried, which can cause the blood to rot. Therefore, the entire collection of evidence, such as clothing or paper should be stored after drying in the shade, if the whole is difficult to collect, remove the blood with a cotton swab and dry it.

After that, the DNA samples collected are genetically analyzed. Genetic analysis is performed through several steps, and it is generally known that it takes 1-3 weeks.

In Korea, genetic information is used in a wide range of fields. It is mainly used for personal identification purposes and medical purposes. In particular, the importance of personal identification using genotype polymorphism is highlighted, and its use in criminal investigation is increasing. Typical fields where genetic information is used are diverse, such as criminal investigation purposes, medical purposes, and finding lost children.

There are many ways to test genes, including paternity test (STR), paternity test (Y-STR), maternal test (X-STR), maternal test (mtDNA), personal identification test, DNA profile test. , Semen check, blood check, bone test.

First, paternity test (STR) is a test to determine whether the parent, parent, child STR genotypes match the parent, mother, child genotypes and then determine whether the paternity relationship through statistical analysis. The cells that make up the human body inherit 23 chromosomes from the parent and the mother, respectively, and have a total of 46 chromosomes. The paternity test is a test that determines whether the paternity is expressed by probabilities as a probability value by examining whether the parent and mock gene types and the child gene types coincide with each other. The results of the test were examined by examining 15 to 18 STR gene loci including the sex chromosome. When the parent and mock gene types matched in the tested locus, the parental probability was investigated. When the value is 99.99% or more, it is recognized as a parent. However, if there is a mismatch in one or two loci, examine the possibility of mutation.

Next, the paternal confirmation test (Y-STR) is a test to check the paternal relationship by examining the STR on the Y chromosome delivered to the grandfather-> father-> child (子). The male sex chromosome has XY, of which the Y chromosome is present only in men and transmitted only to sons. The son again inherits the Y chromosome, so all men in the same family have the same Y chromosome. Therefore, the paternity test using the Y chromosome is a test that confirms paternal kinship by examining a specific STR genotype present in the Y chromosome. If all of the tested Y-STR loci coincide, a paternal relationship is established. However, if one or two of the established Y-STR loci are inconsistent, examine the possibility of mutation.

Next, the maternal confirmation test (X-STR) is a test for checking the kinship relationship of women by examining the STR on the X chromosome. Since the male sex chromosome is XY and the female sex chromosome is XX, in the STR locus present in the X chromosome, the male has a single allele and the female has two alleles. In women, one of the two alleles on the X chromosome is inherited from the parent and the other is from the paternal, so they have a shared allele in the existing STR locus on the X chromosome. Using these genetic properties, X-STR analysis on X chromosomes makes it possible to identify paternal relationships in women. If all of the X-STR loci tested match, a paternal relationship in women is established. However, if one or two of the tested X-STR loci are inconsistent, examine the possibility of mutation.

Next, the maternal confirmation test (mtDNA) is a test that checks the maternal kinship relationship by examining the mitochondrial DNA that has a characteristic transferred from mother to children. Two types of DNA exist in human cells. One is the DNA present in the cell nucleus, which accounts for most of the cell, and the other is a small fraction of the DNA present in the mitochondria in the cytoplasm. When fertilization takes place within the cell, sperm penetrates the egg and delivers only DNA from the nucleus, while mitochondria do not deliver DNA. Therefore, the genetic information of mitochondrial DNA depends entirely on the egg, that is, the mother's mitochondrial DNA, and unique maternal genetic phenomena occur. Mitochondrial DNA, characterized by this maternal inheritance, is passed from maternal grandmother to mother and mother's siblings, and from mother to son and daughter. Therefore, analysis of the mitochondrial DNA inherited from the maternal line can confirm whether the same maternal blood. The sequencing of the mitochondrial DNA mutants, HV1, HV2, and HV3 regions, confirms that the identical parent system is established if all nucleotide sequences matched. However, if one or two of all the bases tested are inconsistent, examine the possibility of mutation.

Next, the personal identification test is a test for determining whether the same person is the same by checking whether the specimens of the incident site are identical to each other. DNA is a genetic material that contains all the genetic information of an individual, and everyone has a DNA profile, a unique genetic pattern that inherits DNA from parents and distinguishes it from others. A DNA profile is a combination of loci where chain repeats occur as a person's shared genetic information that can identify a person. A personal identification test is a test that determines whether two or more samples belong to the same person by examining whether DNA profiles, which are genetic evidences, coincide with each other. For example, a DNA test is performed on the offender's hair and the suspect's specimen that fell at the scene of the incident, and then examined to determine whether they are identical by checking whether they are identical. If two genes coincide in all loci tested by DNA analysis, they are found to be the same person. Inconsistencies in more than one locus indicate that they belong to different people.

Next, the DNA profile test can be used to identify a person in case of an accident through genetic identification of an individual (one person), and in the case of infants, it is a test with a strong discrimination that can be found when a child is lost. It can be used to identify a person in case of an accident through the DNA profile test of an individual (1 person) .If an infant knows the DNA profile in advance through a DNA profile test, it can be found through a database of genetic information when a child is lost. .

All of the genetic testing methods as noted herein, most of the statistical calculations for paternity and kinship check, such as subordinate index is performed by hand or by Excel.

However, various conventional genetic test methods as described above are very inconvenient because the statistical calculations for paternity and kinship checks such as subordinate indexes are made manually or by hand using Excel. there was.

In addition, the software for paternity and blood relationship check developed in the prior art is developed abroad, the cost is expensive and it is difficult to be compatible with the system currently used in our country.

Accordingly, the present invention has been proposed to solve all the problems occurring in the prior art as described above,

The problem to be solved by the present invention is to provide a paternity verification system and method using a genetic analysis to implement the subordinate index calculation algorithm for paternity verification to ensure the reliability and accuracy of paternity verification.

Another problem to be solved by the present invention is to provide a paternity verification system and method using gene analysis that can systematically manage a large amount of genetic analysis data and effectively search and compare.

Another problem to be solved by the present invention is to receive the test result (gene profile) in the genetic testing equipment through an automated system to prevent errors due to mistakes in the input process, easy to use and internationally standardized and It is to provide a paternity verification system and method using genetic analysis capable of paternity verification through reliable statistical analysis.

According to a preferred embodiment of the present invention for solving the above problems "Parental verification method using gene analysis",

(a) uploading a genetic test result from a genetic test device;

(b) determining a genotype based on a marker value included in the genetic test result;

(c) extracting the frequency of the allele by substituting the determined genotype into the frequency table of the allele;

(d) calculating the paternity index for each genotype by applying the extracted frequencies of alleles to a paternity index formula for calculating paternity indexes;

(e) calculating a combined paternity index (CPI) by calculating the paternity index for each genotype;

(f) calculating a paternity probability using the calculated paternity index.

The marker includes 13 CODIS markers, which are FBI standard markers, and is characterized by using 17 markers included in internationally standardized and commercialized Identifiler, PowerPlex 16, and the like as standard markers.

The binding paternity index is characterized in that it is calculated by multiplying the paternity index for each genotype.

The paternity probability (PP (%)) is characterized in that it is calculated by the following formula.

Figure pat00001

Where CPI is the combined paternal index.

In addition, the "paternity verification method using gene analysis" according to the present invention,

(g) calculating an Identity by descent (IBD) constant for verifying blood relationship;

(h) determining a genotype based on the marker value included in the genetic test result, and extracting the frequency of the allele by substituting the determined genotype into the frequency table of the allele;

(i) calculating respective marker values by applying the calculated IBD constant and allele frequency to a correlation index calculation formula, and calculating a correlation index based on the calculated marker values;

(j) applying the calculated kinetic index to the kinetic relation probability calculation formula further comprising the step of calculating the kinetic relation probability.

The kinship index is

And multiplying the calculated marker values to calculate a multiplication value, and multiplying the multiplication value by a multiplied value of Unrelated to calculate the multiplication value.

The relationship between the probability of kinship is

Figure pat00002
.

According to a preferred embodiment of the present invention for solving the above problems "Parental verification system using gene analysis",

A genetic information receiver configured to upload an allele test result from a genetic test equipment;

Genetic analysis to extract paternity verification algorithm stored in internal memory and extract paternity and kinship probability for paternity and kinship relationship by matching the received allele test result according to the extracted paternity verification algorithm Wealth;

Paternity / relationship determination unit for determining paternity and kinship relations based on paternity probability and kinship probability extracted from the genetic analysis unit;

And a kinship relationship report generation unit for generating a kinship relationship report based on the paternity and kinship relationship determination result determined by the paternity / kinship relationship determination unit.

The paternity verification algorithm,

A genotype is determined based on a marker value included in a genetic test result, and the frequency of the allele is extracted by substituting the determined genotype into the frequency table of the allele, and the paternity index is used to calculate the paternity index. Calculate paternity index for each genotype by applying to the exponential formula, calculate the bound paternal index (CPI) by calculating based on paternity index for each genotype, and calculate paternity probability using the calculated paternity index Characterized in that it comprises.

Preferably the paternity verification algorithm,

Calculate Identity by descent (IBD) constant for kinship relationship, determine genotype based on marker value included in gene test result, and extract frequency of allele by substituting the determined genotype in frequency table of allele And calculating the marker values by applying the calculated IBD constant and the allele frequency to the kinetic index calculation formula, calculating a kinetic index based on the calculated marker values, and calculating the kinetic index. It is characterized in that it further comprises calculating the relationship between the probability by applying the relationship between the relationship probability.

According to the present invention, there is an advantage that the reliability and accuracy of paternity verification can be secured by the subordinate index calculation algorithm for paternity.

In addition, according to the present invention there is an advantage that can systematically manage a large amount of genetic analysis data and effectively compare and search.

In addition, by receiving the result (gene profile) tested in the genetic testing equipment through an automated system, there is an advantage that prevents errors due to the input process, and provides convenience for use.

In addition, according to the present invention has the advantage of providing a family search and verification system that can be utilized, such as missing persons, death and missing children.

In addition, according to the present invention there is an advantage that can easily manage a large amount of genetic information, and quickly analyze the paternity / family relationship to find the family of missing persons and death.

1 is a block diagram of a paternity verification system using a genetic analysis according to the present invention.
Figure 2 is a flow chart showing a paternity verification method using a genetic analysis according to the present invention.
Figure 3 is an illustration of a standard STR marker applied to the present invention.
Figure 4 is an exemplary diagram for formulating the subordinate and mother index in the present invention.
5 is an exemplary diagram for paternity index calculation in the present invention.
Figure 6 is an illustration of the frequency of alleles by marker in the present invention.
Figure 7 is a result of paternity analysis using the STR marker in the present invention.
Figure 8 is an illustration of the IBD constant applied in the present invention.
Figure 9 is an exemplary view for confirming the blood relationship in the present invention.
Figure 10 is an exemplary view for calculating the blood relationship index in the present invention.
Figure 11 is a result of the blood relationship analysis using the STR marker in the present invention.
Figure 12 is an exemplary database ERD in the present invention.
13 is an exemplary view of a paternity analysis result determination rule (RULE) in the present invention.

Hereinafter, preferred embodiments of the present invention will be described in detail with reference to the accompanying drawings. In the following description, well-known functions or constructions are not described in detail since they would obscure the invention in unnecessary detail.

1 is a block diagram of a "paternity verification system using gene analysis" according to a preferred embodiment of the present invention, the genetic information receiving unit 110, information management unit 120, gene analysis unit 130, paternity / kinship relationship It is composed of a determination unit 140, blood relationship testimonial generation unit 150 and the data backup management unit 160.

Here, the gene information receiving unit 110 serves to upload an allele test result from a genetic test device (for example, GeneMapper), and although not shown in the drawing, it is preferable to include a communication module for communication. In particular, in order to perform paternity verification on a web basis, it is preferable to be connected to the Internet and receive data.

The information management unit 120 serves to manage the relationship information of the gene to be analyzed, receives the accidental information or family information, etc., and manages this by matching the allele test result uploaded by the genetic information receiving unit 110. It plays a role, and allows the input of the experimental kit through the information management unit 120 so that the addition and management of the kit later.

Genetic analysis unit 130 withdraws the paternity verification algorithm stored in the internal memory, and matching the allele test result received through the genetic information receiving unit 110 according to the extracted paternity verification algorithm corresponding paternity identification and blood It is responsible for extracting paternity probabilities and kinship probabilities for relationship verification.

Here, the genetic analysis unit 130 includes a database, in which the allele frequency table for extracting the frequency of the allele, a standard STR marker, and the like are stored. 12 shows an ERD of a database applied to the present invention.

The paternity verification algorithm determines a genotype based on a marker value included in a genetic test result, extracts the frequency of the allele by substituting the determined genotype into the frequency table of the allele, and extracts the frequency of the extracted allele. The paternity index for each genotype is calculated by applying the paternity index formula for calculating paternity index, and calculated based on the paternity index for each genotype, to calculate the bound paternal index (CPI), and the calculated binding The process includes calculating paternity probability using paternity index.

In addition, preferably, the paternity verification algorithm may calculate an identity by descent (IBD) constant for kinship relations, determine a genotype based on a marker value included in a genetic test result, and determine the genotype of the allele. The frequency of the allele is extracted by substituting the frequency table, the marker values are calculated by applying the calculated IBD constant and the allele frequency to the kinetic index calculation formula, and the kinetic index based on the calculated marker values. And calculating the kinetic relationship probability by applying the calculated kinetic index to the kinetic relationship probability calculation formula.

The paternity / kinship determination unit 140 is to determine the paternity and kinship relationship based on the paternity probability and the kinship probability extracted from the genetic analysis unit 130, the kinship relationship tester generation unit 150 is The paternity / kind relationship determination unit 140 plays a role in generating a kinship relationship based on the result of paternity and kinship determination.

Here, the kinship appraisal is basically a format in which paternity probability information and kinship probability information can be input into a predetermined appraisal form (format).

The data backup manager 160 serves to store and manage the relationship information of the gene to be analyzed, the gene analysis result information, the generated blood relationship test report, etc. generated by the information manager 120.

2 is a flowchart showing a "paternity verification method using gene analysis" according to a preferred embodiment of the present invention, where S represents a step.

As shown therein, (a) receiving the genetic test results from the genetic test equipment (S101); (b) determining a genotype based on a marker value included in the genetic test result (S102); (c) substituting the determined genotype into the frequency table of alleles to extract the frequency of alleles (S103); (d) calculating the paternity index for each genotype by applying the extracted frequency of the allele to a paternity index formula for calculating the paternity index (S104); (e) calculating a combined paternity index (CPI) by calculating the paternity index for each genotype (S105); (f) calculating a paternity probability using the calculated paternity index (S106); (g) calculating an Identity by descent (IBD) constant for identifying a blood relationship (S107); (H) determining the genotype based on the marker value included in the genetic test result, and extracting the frequency of the allele by substituting the determined genotype in the frequency table of the allele (S108); (i) calculating respective marker values by applying the calculated IBD constant and allele frequency to a correlation index calculation formula and calculating a correlation index based on the calculated marker values (S109); (j) calculating the relative relationship probability by applying the calculated correlation index to the relation relationship probability calculation step (S110).

The "parent-child verification system and method using genetic analysis" according to the present invention configured as described above provides a sub-index calculation algorithm for paternity and a search algorithm for finding missing, modified and missing families, and provided algorithms. We find paternity and missing persons, death and death, and perform statistical verification through user-oriented web-based algorithm.

To this end, in the present invention, a standard STR marker for paternity and kinship analysis is selected, stored in a database in the genetic analysis unit 130, and utilized in the calculation.

3 is a standard STR marker applied to the present invention, including 13 CODIS markers, which are FBI standard markers, and 17 markers included in internationally standardized and commercialized Identifiler, PowerPlex 16, and the like were selected as standard STR markers. Based on Identifiler, the Penta D and Penta E markers of PowerPlex 16 were additionally included. In addition, new marker systems can be added and managed for future identification, allowing new markers to be used for calculations.

As such, the standard STR marker is selected and stored in the database, and the genetic information (genetic test result) to be analyzed is uploaded from the genetic test equipment through the genetic information receiving unit 110 (S101).

The uploaded genetic information is input to the genetic analysis unit 130 by matching the information related to the test subject in the information management unit 120, the genetic analysis unit 130 extracts the paternity verification algorithm stored in the internal memory, the paternity The input genetic test result is analyzed through an identification verification algorithm.

As an analysis process, first, genotype is determined based on a marker value included in the genetic test result (S102).

In the present invention, paternity and maternal index is calculated between one parent and a duo, both parents and a child as shown in FIG. 4 for statistical verification of paternity and paternity results. For the calculations, Forensic DNA Evidence Interpretation Chapter 10 (2005, Buckleton et al., CRC Press) and Lee et al. (Forensic Sci Int. 2000. 114: 57-65.) Were used. In the case of mutations, Brenner's method was applied to the index calculation.

Here, when the marker in the STR marker is D3S1358, as shown in FIG. 5, since the two alleles are children 15 and 16 and negatives 15 and 16, a = 15 and b = 16.

Next, the determined genotype is substituted into the frequency table of the allele as shown in FIG. 6 to extract the frequency of the allele (S103). In this case, it is preferable to store the frequency table of alleles in a database in advance.

Looking for the frequency of each allele with reference to the frequency table of the alleles, it can be seen that P 15 = 0.4, P 16 = 0.321.

Next, the frequency of the extracted alleles is applied to a paternity index (PI of FIG. 4) for calculating paternity indices to calculate paternity indexes for each genotype (S104).

Referring to FIG. 4, since Genotype Child is ab and Genotype Allegd Father is ab, applying (P a + P b ) / (4P a P b ), the formula of Paternity Index (PI), (0.4 + 0.321) ) / (4 × 0.4 × 0.321) = 1.403

Thereafter, the coupling paternity index (CPI) is calculated based on the paternity index for each genotype (S105). For example, the combined paternity index (CPI) is calculated by multiplying the calculated PI values.

Subsequently, the Probability of Paternity (PP) (also called paternity probability) is calculated using the calculated CPI (S106). The formula for calculating the paternity probability is as shown in Equation 1 below.

Figure pat00003

7 is a paternity index and paternity probability obtained using the genetic information of the STR marker used in PowerPlex16, and the paternity probability (PP) is 99.99%.

When the paternity probability is calculated in this way, the calculated paternity probability value is transmitted to the paternity / kinship relationship determination unit 140, and the paternity / kinship relationship determination unit 140 determines the predetermined paternity probability value in advance. It is applied to the rule RULE to determine whether the paternity. 13 is an example of a paternity analysis result determination rule. Here, since the paternity probability shown in FIG. 7 is 99.99%, the test allele can be determined as paternity.

After determining whether or not the paternity as described above, the result is transmitted to the blood relationship test generator 150, the blood relationship test generator 150 records each information in a pre-generated form as shown in FIG. You will create a relationship report.

Although not shown in the drawing, the generated blood relationship testimonial is stored and managed in a database through the data backup management unit 160 and is transmitted to a printer or the like, and the blood relationship test report is output as a document.

On the other hand, in the present invention, it is possible to determine whether the paternity through the process as described above, by performing the statistical verification of the relationship between the blood relationship check and the blood relationship is analyzed more accurately the blood relationship.

That is, an Identity by descent (IBD) constant for calculating blood ties is calculated (S107). Here, the IBD constant is performed through the constant calculation sheet as shown in FIG. 8. It is preferable that the IBD constant calculation sheet is also produced through experiments in advance and stored in a database in the genetic analysis unit 130.

Next, genotype is determined based on the marker value included in the genetic test result, and the frequency of the allele is extracted by substituting the determined genotype into the frequency table of the allele as shown in FIG. 6 (S108).

Subsequently, the marker values are calculated by applying the calculated IBD constant and the allele frequency to the kinetic index (Frequency) shown in FIG. 9, and the kinetic index is calculated based on the calculated marker values. (S109).

Here, the correlation index calculation method may compare the two alleles in the same manner as the paternity index calculation method to obtain a frequency, and the correlation index may be obtained using FIG. 9. However, the difference in the relationship between the kinship and paternity index is calculated based on the parent-child, full sibs, half sibs, first cousins, unrelated, and each value is calculated for each marker as shown in FIG.

Here, the kinship index is calculated by multiplying all the calculated marker values and calculating the multiplication value by multiplying the multiplied value by Unrelated.

Subsequently, the calculated correlation coefficient is applied to the relationship between the correlation coefficients as shown in Equation 2 below to calculate the relationship relation probability (S110).

Figure pat00004

FIG. 11 is a relationship between the kinetic index and the correlation probability obtained by using the genetic information of the STR marker used in the PowerPlex16. Referring to FIG.

In this way, when the relationship relation probability is calculated, the calculated relationship relation probability value is transmitted to the paternity / kinship relation determination unit 140, and the paternity / correlation relation determination unit 140 pre-transmits the delivered relationship relation probability value. It is determined whether the paternity is applied to the set criteria determination rule (RULE). 13 is an example of a paternity analysis result determination rule. Here, since the probability of parent-child is the highest and 99.99% of the kinship relations shown in FIG. 11, paternity can be determined.

After determining whether or not the paternity as described above, the result is transmitted to the blood relationship test generator 150, the blood relationship test generator 150 records each information in a pre-generated form as shown in FIG. You will create a relationship report.

Although not shown in the drawing, the generated blood relationship testimonial is stored and managed in a database through the data backup management unit 160 and is transmitted to a printer or the like, and the blood relationship test report is output as a document.

According to the present invention, paternity and kinship relations can be efficiently performed by using autosomal STR gene analysis data for an explosive increase of missing persons, mutants, and missing children by using a paternity and kinship index calculation algorithm. Will be. In addition, gene information is automatically inputted by using the file output from GeneMapper, so there is an advantage that you can easily enter a large amount of information, and one-to-one comparison between the input targets can accurately check the parent / blood relationship. In addition, it is possible to select and compare partial samples (arbitrary markers) or compare all samples (all markers) entered in the database to perform relationship verification.In addition, new kits and corresponding markers can be added in the future. Also improved the castle.

It will be understood by those skilled in the art that various changes in form and details may be made therein without departing from the spirit and scope of the invention as defined in the appended claims and their equivalents. Of course, such modifications are within the scope of the claims.

110 ... Genetic information receiver
120 ... Information management department
130 ... Genetic analysis department
140 ... Paternity and kinship
150 ... Blood relationship
160 ... Data backup management department

Claims (11)

A genetic information receiver configured to upload an allele test result from a genetic test equipment;
Genetic analysis to extract paternity verification algorithm stored in internal memory and extract paternity and kinship probability for paternity and kinship relationship by matching the received allele test result according to the extracted paternity verification algorithm Wealth;
Paternity / relationship determination unit for determining paternity and kinship relations based on paternity probability and kinship probability extracted from the genetic analysis unit;
Paternity verification system using a genetic analysis, characterized in that it comprises a blood relationship test report generating unit for generating a blood relationship test based on the paternity and blood relationship determination result determined by the paternity / blood relationship determination unit.
The method of claim 1, wherein the paternity verification algorithm,
A genotype is determined based on a marker value included in a genetic test result, and the frequency of the allele is extracted by substituting the determined genotype into the frequency table of the allele, and the paternity index is used to calculate the paternity index. Calculate paternity index for each genotype by applying to the exponential formula, calculate the bound paternal index (CPI) by calculating based on paternity index for each genotype, and calculate paternity probability using the calculated paternity index Paternity verification system using a genetic analysis, characterized in that.
The method of claim 2, wherein the paternity verification algorithm,
Calculate Identity by descent (IBD) constant for kinship relationship, determine genotype based on marker value included in gene test result, and extract frequency of allele by substituting the determined genotype in frequency table of allele And calculating the marker values by applying the calculated IBD constant and the allele frequency to the kinetic index calculation formula, calculating a kinetic index based on the calculated marker values, and calculating the kinetic index. A paternity verification system using genetic analysis, characterized in that it is calculated by applying the relationship between the relationship probability calculation formula.
The method according to claim 1,
Further comprising a data backup management unit for storing and managing the relationship information of the gene to be analyzed, gene analysis result information, the generated blood relationship testimonials,
The genetic analysis unit paternity verification system using a genetic analysis, characterized in that it comprises an allele frequency table for extracting the frequency of the allele, a database storing a standard STR marker.
(a) uploading a genetic test result from a genetic test device;
(b) determining a genotype based on a marker value included in the genetic test result;
(c) extracting the frequency of the allele by substituting the determined genotype into the frequency table of the allele;
(d) calculating the paternity index for each genotype by applying the extracted frequencies of alleles to a paternity index formula for calculating paternity indexes;
(e) calculating a combined paternity index (CPI) by calculating the paternity index for each genotype;
(f) paternity verification method using a genetic analysis comprising the step of calculating the paternity probability using the calculated paternity index.
The patern of claim 5, wherein the marker includes 13 CODIS markers, which are FBI standard markers, and 17 markers included in internationally standardized and used Identifiler, PowerPlex 16, and the like are used as standard markers. Verification Verification Method.
The method of claim 5, wherein the combined paternity index is calculated by multiplying the paternity index for each genotype.
The method of claim 5, wherein the paternity probability (PP (%)) is calculated by the following formula.
Figure pat00005

Where CPI is the combined paternal index.
The method according to claim 5,
(g) calculating an Identity by descent (IBD) constant for verifying blood relationship;
(h) determining a genotype based on the marker value included in the genetic test result, and extracting the frequency of the allele by substituting the determined genotype into the frequency table of the allele;
(i) calculating respective marker values by applying the calculated IBD constant and allele frequency to a correlation index calculation formula, and calculating a correlation index based on the calculated marker values;
(j) a method for verifying paternity using genetic analysis, further comprising calculating the relationship between the probability of applying the calculated relationship index to the relationship between the relationship probability.
The method according to claim 9, wherein the blood relationship index,
Multiplying the calculated marker values to calculate a multiplication value, and multiplying the multiplication value by a multiplied value of Unrelated to calculate paternity verification using genetic analysis.
The method of claim 9, wherein the relationship between the probability of calculating the relationship
Figure pat00006
Paternity verification method using a genetic analysis, characterized in that the.
KR1020110146492A 2011-12-29 2011-12-29 System for parentage analysis using dna data from diploid single-locus codominant genetic markers and method thereof KR20130077658A (en)

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Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016093594A1 (en) * 2014-12-11 2016-06-16 대한민국(관리부서:행정자치부 국립과학수사연구원장) Victim identification system
KR20190139480A (en) * 2018-06-08 2019-12-18 주식회사 불루젠코리아 Full siblings analysis using Genotyping
KR20210130513A (en) 2020-04-22 2021-11-01 대한민국(관리부서: 행정안전부 국립과학수사연구원장) High-speed searching device and method for identity confirmation of the relationship more than second degree

Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016093594A1 (en) * 2014-12-11 2016-06-16 대한민국(관리부서:행정자치부 국립과학수사연구원장) Victim identification system
KR20190139480A (en) * 2018-06-08 2019-12-18 주식회사 불루젠코리아 Full siblings analysis using Genotyping
KR20210130513A (en) 2020-04-22 2021-11-01 대한민국(관리부서: 행정안전부 국립과학수사연구원장) High-speed searching device and method for identity confirmation of the relationship more than second degree

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