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Analysis method and analysis processing device for heterozygous deletion of human HLA chromosome region

A technology for loss of heterozygosity and analysis method, which is applied in the field of analysis method and analysis processing device for loss of heterozygosity in human HLA chromosomal regions, and achieves the effect of small manual interpretation workload, convenient flow and batch operation

Active Publication Date: 2021-03-16
SHENZHEN TISSUEBANK PRECISION MEDICINE CO LTD +3
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] Post-transplant recurrence caused by HLA Loss is a newly discovered phenomenon in recent years. At present, there are only a handful of transplant centers that can detect it in the world. Some institutions try to detect it by fluorescent quantitative PCR. However, this method can only cover about HLA type of 70% of the population
There is even a blank in China, and there is no efficient, accurate, mature and reliable detection method and system for detection and analysis

Method used

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  • Analysis method and analysis processing device for heterozygous deletion of human HLA chromosome region
  • Analysis method and analysis processing device for heterozygous deletion of human HLA chromosome region
  • Analysis method and analysis processing device for heterozygous deletion of human HLA chromosome region

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0056] Example 1: Detection of Heterozygosity Negative Recipients in HLA Chromosomal Regions After Hematopoietic Stem Cell Transplantation

[0057] 1. Perform targeted sequencing testing on hematopoietic stem cell transplant recipients to obtain matching and chimerism results

[0058] In this example, the postoperative blood samples of hematopoietic stem cell transplantation recipients were used, and the genomic DNA was extracted as a template for next-generation targeted sequencing detection, and the detection results were analyzed by the analysis method of the present invention.

[0059] The HLA matching results of the pre-transplant recipients obtained from the pre-transplant matching report are: A*02:10, A*24:02, B*15:01, B*40:01, C*03:03, C*07 :02,DRB1*09:01,DRB1*14:05,DQB1*05:03,DQB1*03:03; donor HLA matching results are: A*24:02,A*26:01,B*15 :01,B*40:01,C*03:03,C*07:02,DRB1*14:05,DRB1*15:02,DQB1*05:03,DQB1*06:01. The B gene and the C gene of the donor and the recipien...

Embodiment 2

[0073] Example 2: Detection of positive recipients with loss of heterozygosity in the HLA chromosomal region after hematopoietic stem cell transplantation

[0074] 1. Perform targeted sequencing detection on recipients after hematopoietic stem cell transplantation, and obtain matching and chimerism results

[0075] In this example, the blood samples of recipients after hematopoietic stem cell transplantation were used, and the genomic DNA was extracted as a template for next-generation targeted sequencing detection, and the detection results were analyzed by the analysis method of the present invention.

[0076] The HLA matching results of the pre-transplant recipients obtained from the pre-transplant matching report are: A*02:03, A*30:01, B*13:02, B*18:01, C*06:02, C*07 :04,DRB1*07:01,DRB1*14:04,DQB1*05:03,DQB1*02:02; donor HLA matching results are: A*11:01,A*30:01,B*13 :02,B*15:02,C*06:02,C*08:01,DRB1*07:01,DRB1*13:02,DQB1*06:04,DQB1*02:02. According to the chimerism rate ...

Embodiment 3

[0089] Embodiment 3: Verify the sensitivity and specificity of the algorithm of the present invention

[0090] In this example, by artificially mixing two healthy human samples in equal proportions, simulating different donor and recipient chimerism rates, using the algorithm of the present invention to detect the proportion of the sequencing results of the two samples at each concentration gradient, and verifying by linear fitting The algorithm sensitivity and specificity of the present invention.

[0091] In this example, two blood samples from healthy people were randomly selected, and the HLA matching results of sample 1 were A*26:01, A*31:01, B*40:06, B*40:06, C*08:01 ,C*15:02,DRB1*09:01,DRB1*15:02,DQB1*06:02,DQB1*03:03, the HLA matching result of sample 2 is A*24:02,A*24:02 ,B*40:01,B*40:03,C*03:04,C*07:02,DRB1*12:01,DRB1*15:01,DQB1*06:02,DQB1*03:01, using After the spectrophotometer detects the DNA concentration of the sample, the two samples are mixed into six differ...

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Abstract

The invention belongs to the field of biological information analysis, and discloses an analysis method and an analysis processing device for heterozygous deletion of a human HLA chromosome region. Aiming at the detection requirement of post-transplantation recurrence caused by HLA Loss, the invention provides the analysis method and the analysis processing device for human HLA chromosome region heterozygous deletion based on the second-generation sequencing data, so that the process and batch operation can be conveniently carried out, the workload of manual interpretation is small, whether HLA chromosome region heterozygous deletion occurs in a sample or not can be accurately detected, and the method has important significance in detecting recurrence after transplantation caused by HLA Loss.

Description

technical field [0001] The invention relates to the field of biological information analysis, in particular to an analysis method and an analysis processing device for loss of heterozygosity in a human HLA chromosome region. Background technique [0002] Loss of heterozygosity (Loss Of Heterozygosity, LOH) is a common chromosomal aberration in malignant tumors. LOH that occurs in the chromosome region of HLA (human leukocyte antigen) is called HLA Loss. After HLA Loss occurs, it will affect the normal expression of HLA, make tumor cells evade the killing of immune cells in the body, and lead to immune escape of tumor cells. HLA Loss is common in solid tumors such as non-small cell lung cancer, and can also occur in blood cancers. If HLA Loss occurs in tumor cells after hematopoietic stem cell transplantation, the tumor cells will not be killed by immune cells, leading to this blood disease relapse. As of 2017, in haploidentical hematopoietic stem cell transplantation cases...

Claims

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Application Information

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IPC IPC(8): G16B20/20
CPCG16B20/20
Inventor 郑仲征贺青青廖宽镇涂小年袁志阳
Owner SHENZHEN TISSUEBANK PRECISION MEDICINE CO LTD
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