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Genetic relationship identification method with SNP as genetic marker

A kind of kinship, genetic marker technology, applied in the field of kinship identification, can solve problems such as inability to determine relationship, unintuitive determination, and increase in the cost of kinship detection.

Pending Publication Date: 2020-05-01
北京奇云诺德信息科技有限公司
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  • Application Information

AI Technical Summary

Problems solved by technology

[0006] Commonly used STR relative identification criteria, the mutation rate of the STR sequence is 10 -3 -10 -5 , much higher than the average mutation in the human genome, 1.4×10 -10 , so the stability of STR is not high, and the typing results of kinship testing using STR as genetic markers are easily affected by mutations; STR polymorphisms are complex, such as multiple core sequence repeats in the same length, core sequence aneuploid repeats, etc. , increasing the difficulty of typing genetic markers STR in kinship testing; STR amplification requires high sample requirements, and STR fragments are not easy to amplify under low concentration conditions, which limits the use of this kinship testing method; STR testing costs Higher and lower throughput, which increases the cost of kinship testing; the genetic information contained in the STR sequence used for kinship testing is only enough to determine the parent-child relationship of two samples, but cannot identify more distant relationships (grandchildren, cousins, etc.) etc.); the conclusion of "unable to determine the relationship" is prone to appear in the identification standard of STR kinship identification, and the judgment is not intuitive. Due to high mutation rate, complex polymorphism and limited information, this detection and identification technology also faces problems such as high detection cost, limited accuracy, and the result is easily affected by the subjective environment. Therefore, we propose to use SNP as a genetic marker kinship detection method

Method used

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  • Genetic relationship identification method with SNP as genetic marker
  • Genetic relationship identification method with SNP as genetic marker

Examples

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Embodiment 1

[0078] Example 1, see figure 1 , a genetic relationship identification method using SNP as a genetic marker, including three major steps: the establishment of a genetic relationship determination model, the typing detection of SNP sites, and the confirmation of the genetic relationship between individuals based on the typing results and the determination model. In the non-coding region, the mutation rate is much lower than that of the STR locus, so it is more stable to use SNP as a genetic marker; a single SNP is only 1kb, while a STR is 15kb long and contains multiple alleles, so the typing difficulty of SNP is much lower than that of STR; STR is the identification of genetic markers, and the detection cost is relatively high. The use of SNP detection will greatly reduce the identification cost. For identification, we have established a probability density judgment model. Compared with the current situation that STR identification is easily affected by subjective factors, the ...

Embodiment 2

[0151] Example 2 is different from Example 1 in that the chip detection used in SNP detection can be replaced by NGS sequencing, PCR amplification or WES sequencing, etc.;

Embodiment 3

[0152] Embodiment 3, different from Embodiments 1 and 2, is: in the probability model, we select 60 sites for detection, which can be replaced by other site numbers, and the corresponding probability density standard model is changed at the same time;

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Abstract

The invention relates to the technical field of genetic relationship identification methods, and discloses a genetic relationship identification method with SNP as a genetic marker. The method comprises the following three steps of: establishing a genetic relationship judgment model, carrying out typing detection on SNP sites, and confirming the genetic relationship among individuals according toa typing result and the judgment model. According to the genetic relationship identification method with the SNP as the genetic marker, the SNP is used as the genetic marker in replacement of STR in the detection mode, so the defects of poor stability, high typing difficulty, high sample quality requirements and high cost when the STR is used as the genetic marker for detection are fully avoided;whether two samples are of a direct line, or are in a first-level genetic relationship, a second-level genetic relationship or a third-level genetic relationship, or are strangers can be directly judged through a new model algorithm; a probability density model is introduced, so the influence caused by various errors is fully avoided; programmed judgment is adopted, so operation is easy and convenient; an SNP typing detection technology is adopted, so typing results are accurate and visual; and a great number of SNP sites are used by the algorithm, the number of repetitions is high, and the result is more accurate.

Description

technical field [0001] The invention relates to the technical field of genetic relationship identification methods, in particular to a genetic relationship identification method using SNP as a genetic marker. Background technique [0002] Genetic relationship identification refers to the comprehensive evaluation of whether there is a genetic relationship between samples by using modern DNA typing detection technology in accordance with the basic principles of genetics. The modern biological genetic theory points out that half of the genome chromosome DNA of offspring comes from both biological parents. In principle, a variety of kinship testing methods have been developed, such as blood group kinship testing and STR genotyping techniques. [0003] Genotyping technology, also known as DNA fingerprinting technology, is an analysis technology that compares and identifies individual DNA by analyzing genotyping. The basic principle process includes: sample DNA extraction, long-ch...

Claims

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Application Information

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IPC IPC(8): G16B20/20G16B20/30
CPCG16B20/20G16B20/30
Inventor 罗奇斌申玉林廖胜光任毅
Owner 北京奇云诺德信息科技有限公司
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