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Probability statistics model-based biological full-sibling identification method

A technology of probability and statistics models and identification methods, applied in the fields of bioinformatics, biological systems, informatics, etc., can solve problems such as the inability to study and evaluate probability distributions, and the lack of system effectiveness evaluation methods

Active Publication Date: 2019-01-25
江苏东南证据科学研究院有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, neither the FSI nor the IBS score has a corresponding systematic efficacy evaluation method for full-sibling identification
[0008] Another example is how to determine the threshold of the corresponding evaluation index: when FSI is used to evaluate the value of genetic evidence for full sibling identification, according to the definition of FSI, when FSI>1, it tends to support that the two identified persons may be biologically complete. compatriots
The reason why these three levels are stipulated is that the existing technology cannot study and evaluate the probability distribution of IBS corresponding to any number of STR gene combinations

Method used

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  • Probability statistics model-based biological full-sibling identification method
  • Probability statistics model-based biological full-sibling identification method
  • Probability statistics model-based biological full-sibling identification method

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0141] According to the "Implementation Standards for Identification of Biological Full-Sibling Relationship, SF / Z JD0105002-2014", and adopt the biological full-sibling identification method based on the probability and statistics model described in the present invention to detect and identify the two identified persons:

[0142] Step 1, DNA extraction:

[0143] Use a commercially available DNA extraction kit to extract the finger blood genomic DNA of two identified persons;

[0144] Step 2, STR typing:

[0145] Use the Goldeneye 20A kit to carry out PCR amplification, and perform STR typing on the 19 must-test loci of the two identified persons to obtain the typing results of 19 mutually independent STR loci;

[0146] Step 3, establish the test hypothesis :

[0147] Null hypothesis H 0 : The two identified individuals are unrelated individuals;

[0148] Alternative Hypothesis H 1 : The two identified persons are biological compatriots;

[0149] Step 4, calculat...

Embodiment 2

[0161] Using the biological full sibling identification method based on the probability and statistics model described in the present invention to evaluate the effectiveness of the given threshold in the "Implementation Specification for Biological Full Sibling Relationship Identification, SF / Z JD0105002-2014":

[0162] According to the above Example 1, when the 19 mandatory STR loci in the "Implementation Standards for the Identification of Biological Sibling Relationships, SF / ZJD0105002-2014" are used to perform the STR typing test on two identified persons, the IBS in the unrelated If the relational individual fits the binomial distribution IBS~B(38,0.3110) in the population, and the IBS fits the binomial distribution IBS~B(38,0.6280) in the whole sibling pair population, then:

[0163] The true unrelated individual with IBS<=13 is: BINOMDIST(13,38,0.3110,TURE)=0.7268

[0164] Full siblings with IBS>=22 are: 1-BINOMDIST(21,38,0.6280,TURE)=0.7876

[0165] Full siblings with...

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Abstract

The invention belongs to the technical field of biological genetics, and relates to a probability statistics model-based biological full-sibling identification method. According to the method, STR locus genotyping is performed on two identified persons so as to obtain the genotyping results of n mutually independent STR loci; and a probability pH0 that the two identified persons are non-consanguinity relation individuals and a probability pH1 that the two identified persons are full siblings can be calculated according to the binomial distribution IBS-B (2n,pi0) of IBSs (identity by states) in a non-consanguinity relation individual pair group and the binomial distribution IBS-B (2n,pi1) of the IBSs in a full-sibling pair group. The probability statistics model-based biological full-sibling identification method of the invention is applicable to any number of STR loci, and has high analysis efficiency, and therefore, the method provided by the technical schemes of the invention has the advantages of broad application prospect and good market potential.

Description

technical field [0001] The invention relates to the technical field of biological genetics, in particular to a biological full sibling identification method based on a probability and statistical model. Background technique [0002] Biological full siblings refer to multiple individuals born to the same pair of biological father and biological mother. Among various identifications of kinship, the identification of biological full siblings (hereinafter referred to as full siblings) is the most common type of identification of kinship besides paternity identification. Two individuals who are identified as full-siblings can use sex chromosome genetic markers (such as Y chromosome STR for males and X chromosome STRs for females) and maternal inheritance of mitochondrial DNA to provide some indirect evidence when they are of the same sex. Supporting evidence, only mitochondrial DNA polymorphisms can provide indirect supporting evidence when sex is different. Due to the limited ...

Claims

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Application Information

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IPC IPC(8): G16B5/00G16B25/10
Inventor 赵书民靳超赵峰赵琪
Owner 江苏东南证据科学研究院有限公司
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