CN115346594B - Ancestor relationship identification method, system, equipment and medium without raw mother participation - Google Patents
Ancestor relationship identification method, system, equipment and medium without raw mother participation Download PDFInfo
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- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
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- G—PHYSICS
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- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
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Abstract
The invention discloses a grandchild relation identification method without raw mother participation, which comprises the following steps: obtaining genotype combinations RS×TW of grandparents and grandparents, obtaining allele frequencies p and q corresponding to genotypes PQ and alleles P, Q of detected children respectively, and calculating ancestor relationship indexes among the grandparents, the grandparents and the detected children under the condition of no participation of the grandparents by adopting a formula GI= [ (a+b+c+d) q+ (e+f+g+h) np ]/(4 spq). According to the method, a calculation formula of the ancestral Sun Guanji Index (GI) under the condition of 35 types of different genotype combinations in the technical exchange paper 'autosomal STR typing identification ancestor relationship' reported by Liu Huiling and the like is simplified into 1 function model, so that the judgment and calculation workload is greatly reduced, and batch processing is facilitated.
Description
Technical Field
The invention relates to the technical field of forensic material evidence identification, in particular to a grandson relationship identification method, system, equipment and medium without participation of a raw mother.
Background
Grandchild relationship identification, kinship Analysis of Grandparent(s) and Grandchildren, refers to identification of whether a biological grandchild relationship exists between a contentious grandparent and a tested child by genetic marking of humans and analysis of genetic rules. Depending on how many reference relatives are, ancestor relationship identifications include at least the following: the grandparents and grandparents participate in the identification of the grandson relationship between the checked child and the grandparents; grandmother and grandfather (or grandmother) are involved in the grandson relationship identification between the detected child and the grandfather (or grandmother); grandfather and grandmother participate in the grandson relationship identification between the detected child and grandfather and grandmother at the same time; grandfather (or grandmother) and examined children. The grandson relationship identification related to the patent refers to the grandson relationship identification among the detected child, the grandfather and the grandmother under the simultaneous participation identification of the grandfather and the grandmother, and the pair of disputed grandfather parents has the grandson relationship with the child or is not the grandfather or the grandmother of the child.
The grandchild relationship index Grandparent index, GI and grandchild relationship index are one of the paternity indexes, and are indexes for judging the genetic evidence intensity in biological grandchild relationship identification. Refers to the ratio of the probability of the occurrence of a genetic phenotype when a grandparent and grandchild (woman) are disputed and the probability of the occurrence of a genetic phenotype when the grandparent and grandchild (woman) are unrelated individuals.
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, which uses specific STR locus primer of STR kit combination to amplify, i.e. copy, DNA template to reach the amount needed by electrophoresis); 4. capillary electrophoresis (genetic analyzer); 5. typing (software) of electrophoresis results; 6. ancestor relationship index calculation (the link of the patent); 7. forming an identification opinion; 8. the identification document is written.
At present, the existing technical specifications in the legal medical expert material evidence ancestor relationship identification field are only 1: the biological ancestor relationship identification Specification (SF/Z JD 0105005-2015) is applicable to ancestor relationship identification in the case of participation of a mother. For grandchild relationship identification under the situation that the birth master does not participate, no national technical specifications exist yet.
The technical communication paper "autosomal STR typing identification grandson relationship" reported by Liu Huiling mainly refers to the calculation of the paternity index (see journal "Chinese forensic science", volume 22, 5, pages 320-322 of 2007) in the field of national forensic material evidence identification, regarding the identification of grandchild relationships between child and child 3 under the condition that neither child nor parent participates.
At present, each judicial appraisal agency performs forensic material evidence appraisal, and the method for calculating the index of the grandson relationship mainly comprises Liu Huiling and other reported technical exchange papers on the calculation of the paternity index of the autosomal STR typing appraisal grandson relationship. Each judicial accreditation organization performs forensic material evidence accreditation, typically manually, for grandson relationship index calculations. The problems existing in the prior art mainly include: in judicial identification practices, a case typically has at least 15-20 STR loci, 40-50 loci in many cases, there are tens of combinations, and several tens of times need to be calculated, if a lot has several tens of cases, several hundreds of times need to be calculated. As the number of cases increases, the computational effort increases dramatically as the number of test STR loci increases. If calculated purely manually, errors are very prone and effort is expended.
Disclosure of Invention
The embodiment of the invention provides a grandchild relation identification method without participation of a raw parent, which comprises the following steps:
obtaining genotype combinations RS×TW of grandparents and grandparents;
wherein RS and TW are genotypes of any one party and the other party of grandparents respectively;
acquiring allele frequencies p and q corresponding to the genotype PQ and the allele P, Q of the detected child respectively;
under the condition of conforming to Mendelian genetic law, namely not considering gene mutation:
calculating grandfather, grandmother and grandson relation index GI values among detected children under the situation of no participation of the grandmother by adopting a formula (1):
GI＝[(a+b+c+d)q+(e+f+g+h)np]/(4spq) (1)
calculating the value of each parameter of the formula (1) according to the following judging conditions:
a=1 if the grandparent's allele R matches the detected child's allele P, i.e., r=p, otherwise a=0;
b=1 if the grandparent 'S allele S matches the detected child' S allele P, i.e. s=p, otherwise b=0;
c=1 if the grandparent's allele T matches the detected child's allele P, i.e., t=p, otherwise c=0;
d=1 if grandparent's allele W matches the detected child's allele P, i.e., w=p, otherwise d=0;
if grandparent's allele R matches the detected child's allele Q, i.e., r=q, then e=1, otherwise e=0;
f=1 if grandparent 'S allele S matches the detected child' S allele Q, i.e., s=q, otherwise f=0;
if grandparent's allele T matches the detected child's allele Q, i.e., t=q, g=1, otherwise g=0;
if grandparent's allele W matches the detected child's allele Q, i.e., w=q, then h=1, otherwise h=0;
s=1, n=0 if the allele P of the child to be detected is identical to Q, i.e. p=q, otherwise s=2, n=1;
according to the formula (1), calculating the GI value of the grandfather relation index between the grandfather and the detected child under the situation of no grandfather participation, and judging the grandfather relation between the grandfather and the detected child under the situation of no grandfather participation according to the GI value of the grandfather relation index.
The invention also provides a grandchild relation identification system without the participation of a raw mother, which is characterized by comprising the following steps:
the genotype acquisition module acquires genotype combinations RS multiplied by TW of grandparents and grandparents, wherein RS and TW are genotypes of any one party and the other party of the grandparents respectively; acquiring allele frequencies p and q corresponding to the genotype PQ and the allele P, Q of the detected child respectively;
the grandchild relation index GI calculation module accords with the Mendelian genetic rule, namely under the condition of not considering gene mutation:
calculating grandfather, grandmother and grandson relation index GI values among detected children under the situation of no participation of the grandmother by adopting a formula (1):
GI＝[(a+b+c+d)q+(e+f+g+h)np]/(4spq) (1)
calculating the value of each parameter of the formula (1) according to the following judging conditions:
a=1 if the grandparent's allele R matches the detected child's allele P, i.e., r=p, otherwise a=0;
b=1 if the grandparent 'S allele S matches the detected child' S allele P, i.e. s=p, otherwise b=0;
c=1 if the grandparent's allele T matches the detected child's allele P, i.e., t=p, otherwise c=0;
d=1 if grandparent's allele W matches the detected child's allele P, i.e., w=p, otherwise d=0;
if grandparent's allele R matches the detected child's allele Q, i.e., r=q, then e=1, otherwise e=0;
f=1 if grandparent 'S allele S matches the detected child' S allele Q, i.e., s=q, otherwise f=0;
if grandparent's allele T matches the detected child's allele Q, i.e., t=q, g=1, otherwise g=0;
if grandparent's allele W matches the detected child's allele Q, i.e., w=q, then h=1, otherwise h=0;
s=1, n=0 if the allele P of the child to be detected is identical to Q, i.e. p=q, otherwise s=2, n=1;
the grandchild relationship judging module is used for calculating the grandparent relationship index GI value between the grandparent and the detected child under the situation of no raw bus participation according to the formula (1), and judging the grandchild relationship between the grandparent and the detected child under the situation of no raw bus participation according to the grandchild relationship index GI value.
The invention also provides a grandchild relation identification device without the participation of the raw bus, which adopts a grandchild relation identification system without the participation of the raw bus and further comprises an input device, an output device, a memory, a processor and a communication part.
The invention also provides a storage medium for identifying ancestor relationship without raw bus participation, which stores a computer program, wherein the computer program is the ancestor relationship identification program without raw bus participation, and the computer program realizes the step of the ancestor relationship identification method without raw bus participation when being executed by a processor.
The embodiment of the invention provides a grandson relation identification method, a system, equipment and a medium without participation of a raw mother, which have the following beneficial effects compared with the prior art:
1. according to the method, a calculation formula of the ancestral Sun Guanji GI value under the condition of 35 different genotypes in technical exchange papers (autosomal STR typing identification ancestor relationship) reported by Liu Huiling and the like (see journal (Chinese legal medical science) 22, 5, 320-322 pages) is simplified into 1 function model, so that the judgment and calculation workload is greatly reduced.
2. The function model is simplified, which is beneficial to computer programming processing and automatic processing of large-batch experimental detection data.
Drawings
FIG. 1 is a flowchart of a method for identifying grandchild relationships without participation of a parent in 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.
Referring to fig. 1, the present patent is optimized with respect to a functional model (calculation method). For the DNA typing result obtained in the detection step before the forensic material evidence identification process, through the setting of related parameters, a calculation formula (see the foregoing) in the case of combining 35 types of different genotypes identified by the grandson relationship under the condition of no participation of a mother in the "paternity index calculation of the autosomal STR typing identification grandson relationship" reported by Liu Huiling and the like is simplified into 1 function model according to different conditions and is used for calculating the grandson relationship index (Grandparent index, GI value). The method comprises the following steps:
description of the symbols of the functional model:
RS×TW, grandparents' genotype combinations (RS, TW are the genotypes of either and the other of the grandparents, respectively)
PQ, genotype of the child to be detected (allele frequencies p and q for P, Q);
the expression of genotypes (RS, TW, PQ) constitutes 2 alleles of the genotype of the same individual at a locus, and the number (representing the number of times the STR allele repeats) may be the same or different. When the values are different, the smaller values are arranged in front. For example, an individual has a combination of alleles at a locus of 8 and 10, expressed as 8/10; when the allele combination is 8 and 8, it is expressed as 8/8.
a, matching of grandparent's allele R with allele P of the child under test, a=1 if allele R matches allele P (i.e. r=p), otherwise a=0;
b, matching of grandparent' S allele S with allele P of the child under test, b=1 if allele S matches allele P (i.e. s=p), otherwise b=0;
c, matching of the grandparent's allele T with the allele P of the child under test, c=1 if the allele T matches with the allele P (i.e. t=p), otherwise c=0;
d, matching the grandparent's allele W with the allele P of the child under test, d=1 if the allele W matches the allele P (i.e., w=p), otherwise d=0;
e, matching of grandparent's allele R with allele Q of the child being tested, if allele R matches allele Q (i.e. r=q), then e=1, otherwise e=0;
f, matching of grandparent' S allele S with allele Q of the child under test, f=1 if allele S matches allele Q (i.e. s=q), otherwise f=0;
g, matching of grandparent's allele T with allele Q of the child under test, g=1 if allele T matches allele Q (i.e., t=q), otherwise g=0;
h, matching of grandparent's allele W with allele Q of the child under test, h=1 if allele W matches allele Q (i.e., w=q), otherwise h=0;
s, the genotype PQ of the child being detected, s=1, n=0 if the child's allele P is the same as Q (i.e. p=q), otherwise s=2, n=1.
Function model:
PI＝[(a+b+c+d)q+(e+f+g+h)np]/(4spq)
example 1: assuming that at a locus, the grandparent genotype combination is 8/10×8/12 and the detected child genotype is 8/10. At this locus, allele 8 had a gene frequency of 0.175, allele 10 had a gene frequency of 0.221, and allele 12 had a gene frequency of 0.134. Then a=1, b=0, c=1, d=0, e=0, f=1, g=0, h=0, s=2, n=1, the function being:
PI＝[(1+0+1+0)*0.221+(0+1+0+0)*1*0.175]/(4*2*0.175*0.221)＝1.9942。
example 2: suppose that at a locus, the grandparent's genotype combination is 8/10X 8/12, and the child's genotype is detected as 8/8. At this locus, allele 8 had a gene frequency of 0.175, allele 10 had a gene frequency of 0.221, and allele 12 had a gene frequency of 0.134. Then a=1, b=0, c=1, d=0, e=1, f=0, g=1, h=0, s=1, n=0, the function being:
PI＝[(1+0+1+0)*0.175+(1+0+1+0)*0*0.175]/(4*1*0.175*0.175)＝2.8571。
the foregoing disclosure is only a few specific embodiments of the invention, and those skilled in the art may make various changes and modifications to the embodiments of the invention without departing from the spirit and scope of the invention, but the embodiments of the invention are not limited thereto, and any changes that may be made by those skilled in the art should fall within the scope of the invention.
Claims (4)
1. A ancestor relationship identification method without raw mother participation is characterized by comprising the following steps:
obtaining genotype combinations RS×TW of grandparents and grandparents;
wherein RS and TW are genotypes of any one party and the other party of grandparents respectively;
acquiring allele frequencies p and q corresponding to the genotype PQ and the allele P, Q of the detected child respectively;
under the condition of conforming to Mendelian genetic law, namely not considering gene mutation:
calculating grandfather, grandmother and grandson relation index GI values among detected children under the situation of no participation of the grandmother by adopting a formula (1):
GI＝[(a+b+c+d)q+(e+f+g+h)np]/(4spq) (1)
calculating the value of each parameter of the formula (1) according to the following judging conditions:
a=1 if the grandparent's allele R matches the detected child's allele P, i.e., r=p, otherwise a=0;
b=1 if the grandparent 'S allele S matches the detected child' S allele P, i.e. s=p, otherwise b=0;
c=1 if the grandparent's allele T matches the detected child's allele P, i.e., t=p, otherwise c=0;
d=1 if grandparent's allele W matches the detected child's allele P, i.e., w=p, otherwise d=0;
if grandparent's allele R matches the detected child's allele Q, i.e., r=q, then e=1, otherwise e=0;
f=1 if grandparent 'S allele S matches the detected child' S allele Q, i.e., s=q, otherwise f=0;
if grandparent's allele T matches the detected child's allele Q, i.e., t=q, g=1, otherwise g=0;
if grandparent's allele W matches the detected child's allele Q, i.e., w=q, then h=1, otherwise h=0;
s=1, n=0 if the allele P of the child to be detected is identical to Q, i.e. p=q, otherwise s=2, n=1;
according to the formula (1), calculating the GI value of the grandfather relation index between the grandfather and the detected child under the situation of no grandfather participation, and judging the grandfather relation between the grandfather and the detected child under the situation of no grandfather participation according to the GI value of the grandfather relation index.
2. A grandchild relationship identification system without the participation of a parent, comprising:
the genotype acquisition module acquires genotype combinations RS multiplied by TW of grandparents and grandparents, wherein RS and TW are genotypes of any one party and the other party of the grandparents respectively; acquiring allele frequencies p and q corresponding to the genotype PQ and the allele P, Q of the detected child respectively;
the grandchild relation index GI calculation module accords with the Mendelian genetic rule, namely under the condition of not considering gene mutation:
calculating grandfather, grandmother and grandson relation index GI values among detected children under the situation of no participation of the grandmother by adopting a formula (1):
GI＝[(a+b+c+d)q+(e+f+g+h)np]/(4spq) (1)
calculating the value of each parameter of the formula (1) according to the following judging conditions:
a=1 if the grandparent's allele R matches the detected child's allele P, i.e., r=p, otherwise a=0;
b=1 if the grandparent 'S allele S matches the detected child' S allele P, i.e. s=p, otherwise b=0;
c=1 if the grandparent's allele T matches the detected child's allele P, i.e., t=p, otherwise c=0;
d=1 if grandparent's allele W matches the detected child's allele P, i.e., w=p, otherwise d=0;
if grandparent's allele R matches the detected child's allele Q, i.e., r=q, then e=1, otherwise e=0;
f=1 if grandparent 'S allele S matches the detected child' S allele Q, i.e., s=q, otherwise f=0;
if grandparent's allele T matches the detected child's allele Q, i.e., t=q, g=1, otherwise g=0;
if grandparent's allele W matches the detected child's allele Q, i.e., w=q, then h=1, otherwise h=0;
s=1, n=0 if the allele P of the child to be detected is identical to Q, i.e. p=q, otherwise s=2, n=1;
the grandchild relationship judging module is used for calculating the grandparent relationship index GI value between the grandparent and the detected child under the situation of no raw bus participation according to the formula (1), and judging the grandchild relationship between the grandparent and the detected child under the situation of no raw bus participation according to the grandchild relationship index GI value.
3. A grandchild relationship authentication apparatus without a primary participation as defined in claim 2, further comprising an input device, an output device, a memory, a processor, and a communication section.
4. A storage medium for grandchild relationship authentication without a primary role, having stored thereon a computer program, wherein the computer program is a grandchild relationship authentication without a primary role, the computer program when executed by a processor implementing the steps of a grandchild relationship authentication method without a primary role as claimed in claim 1.
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