Human Y chromosome STR and SNP genetic marker joint detection system and detection method based on NGS

A genetic marker and Y chromosome technology, applied in the field of forensic genetics, can solve problems such as insufficient research on mutation rate, inability to effectively reduce the workload of criminal investigation, and omission in investigation

Inactive Publication Date: 2021-02-09
河南高新生物科技有限公司
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  • Abstract
  • Description
  • Claims
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AI Technical Summary

Problems solved by technology

[0008] 1. Most of the existing Y-STR kits on the market are imported kits, and the number of loci is mostly more than 20, and the selected loci do not conform to the characteristics of the genetic data of the Chinese population, and the number of Y-STR loci is insufficient. It will lead to too many individuals in the returned results, which cannot effectively reduce the workload of criminal investigation
In addition, based on the possibility of mutation and deletion of Y-STR itself, the greater the number of Y-STR loci, the greater the probability of missing or abnormal typing, resulting in missed screening
[0009] 2. With the discovery of the third-generation genetic marker SNP, a large number of research institutions at home and abroad have invested in related research, and a small number of finished autosomal SNP detection kits have been put on the market. Relatively speaking, the genetic polymorphism of Y-SNP Research is still insufficient: less population data, insufficient research on mutation rate, etc.
Moreover, the Y-SNP population genetics data obtained by foreign researchers are not applicable to the Chinese population, so these deficiencies have seriously affected the application of Y-SNP loci in my country's judicial identification practice

Method used

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  • Human Y chromosome STR and SNP genetic marker joint detection system and detection method based on NGS
  • Human Y chromosome STR and SNP genetic marker joint detection system and detection method based on NGS
  • Human Y chromosome STR and SNP genetic marker joint detection system and detection method based on NGS

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0125] Example 1 A NGS-based joint detection technology system and detection method of human Y chromosome STR and SNP genetic markers Y-STR and Y-SNP accurate typing verification

[0126] Experiment preparation:

[0127] Illumina sequencing was performed on 50 Y-STR and 150 Y-SNP sites of a male DNA, and the detection results of a single site were compared with the sequencing results to ensure the importance of detection.

[0128]Mix the upstream and downstream primers of each site to form Primer Pairs Mix F1 / R1 (F2 / R2). According to the results of the single amplification and multiple repetition compound amplification detection tests in the above-mentioned experimental technical scheme, adjust the PCR amplification primers and Extend the concentration of the primers, try to balance the peaks at each site, avoid or reduce the appearance of non-specific peaks, and determine the ratio of the final primer pool. (Single primer concentration 0.02-0.05μM)

[0129] result:

[0130...

Embodiment 2

[0143] Example 2 Evaluating the performance of a NGS-based joint detection technology system and detection method for human Y chromosome STR and SNP genetic markers on serially diluted samples

[0144] 1. Sample preparation:

[0145] (1) The FTA blood card samples were taken from 8 unrelated healthy male individuals, and the DNA was extracted according to the standard in GA / T383-2014, using the chelex method.

[0146] (2) Repeatability and sensitivity section

[0147] One sample was used to prepare serial dilution series of DNA templates (1ng, 500pg, 200pg, 100pg, 50pg) for sequencing using qubit absolute quantification results, and each sample was tested 3 times in parallel for repeatability and sensitivity studies.

[0148] 2. Using multiplex PCR library to construct gene library:

[0149] For the library construction method of the present invention, see the implementation method of the library construction link in the specific technical scheme for specific implementation ...

Embodiment 3

[0169] Example 3 Evaluation of a NGS-based human STR and SNP genetic marker joint detection technology system and detection method for mixed samples

[0170] 1. Sample preparation (mixed DNA part):

[0171] According to the quantitative results of Example 1, the DNA quantitative results of 8 male samples are grouped, and 2 DNA samples of a single type are selected to construct 4 groups of DNA samples mixed with two males, and 4 mixing ratios (1 :1, 1:4, 1:9, 1:19), each mixed sample was tested 3 times in parallel.

[0172] 2. Library construction:

[0173] Using the library construction method of the present invention, different mixed samples are used for library construction and sequencing detection with an initial DNA amount of 1 ng. For specific implementation steps, see the implementation method of the library construction link in the specific technical scheme.

[0174] 3. Sequencing and data analysis:

[0175] Apply the sequencing method of the present invention, and u...

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Abstract

The invention belongs to the technical field of forensic genetics, and particularly relates to a human Y chromosome STR and SNP genetic marker joint detection system and detection method based on NGS.In order to construct a Y chromosome database, the specific Y chromosome STR and Y chromosome SNP markers of men are selected to successfully construct a joint detection system of 50 Y-STR genetic markers and 150 Y-SNP genetic markers, so that various genetic information can be detected at one time, and technical support is provided for domestic forensic NGS technology detection and rapid development of related fields.

Description

technical field [0001] The invention belongs to the technical field of forensic genetics, and in particular relates to an NGS-based joint detection system and detection method of human Y chromosome STR and SNP genetic markers. Background technique [0002] The Y chromosome is a type of chromosome that only exists in male individuals. Its non-recombination region has the characteristics of paternal inheritance, non-recombination, small effective population and geographical specificity. Because it only exists in male individuals, it plays an important role in forensic science, such as in sexual assault cases where men are suspects, as well as in the identification of the victims of mass disasters and the investigation of missing persons. And because of its characteristics such as paternal inheritance and geographical particularity, it has also become one of the important tools for studying human evolution and group structure. In recent years, more and more forensic science wo...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6888C12Q1/6806C40B50/06C12Q1/6869C12N15/11G16B20/20G16B30/10
CPCC12Q1/6806C12Q1/6869C12Q1/6888C12Q2600/156C12Q2600/16C12Q2600/172C40B50/06G16B20/20G16B30/10C12Q2525/191C12Q2523/308C12Q2531/113C12Q2537/143C12Q2535/122
Inventor 董晓静刘海张振兴全旺陈雪红
Owner 河南高新生物科技有限公司
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