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Digital PCR kit, primer and probe for detecting Waldenstrom macroglobulinemia related gene mutation

A macroglobulin and kit technology, used in biochemical equipment and methods, microbial determination/inspection, DNA/RNA fragments, etc., can solve problems such as abnormal C-terminus of protein structure, loss of serine, and impaired internalization of CXCR4

Active Publication Date: 2021-12-03
JIANGSU PROVINCE HOSPITAL THE FIRST AFFILIATED HOSPITAL WITH NANJING MEDICAL UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

CXCR4 WHIM Mutations can lead to abnormalities in the C-terminus of the CXCR4 protein structure, resulting in the loss of regulatory serine, resulting in impaired internalization and prolonged activation of CXCR4

Method used

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  • Digital PCR kit, primer and probe for detecting Waldenstrom macroglobulinemia related gene mutation
  • Digital PCR kit, primer and probe for detecting Waldenstrom macroglobulinemia related gene mutation
  • Digital PCR kit, primer and probe for detecting Waldenstrom macroglobulinemia related gene mutation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0051] A digital PCR kit for detecting WM-related gene mutations, the specific composition of the kit is shown in Table 4:

[0052] Table 4

[0053]

[0054]

[0055] Applicable instrument: QX200 Droplet Digital PCR System (BioRad, USA).

[0056] Sample requirements: It is suitable for the detection of human genomic DNA (cfDNA) extracted from plasma samples or human genomic DNA extracted from bone marrow samples.

[0057] Positive judgment value or reference interval: 0.5‰CXCR4 S338X gene mutation can be detected for 2ng / μL DNA.

[0058] Testing method:

[0059] 1. Sample processing:

[0060] Perform nucleic acid extraction by yourself (commercial kits are recommended to extract DNA) and use it as a template for PCR reactions. It is recommended to test the extracted nucleic acid immediately, otherwise store it below -20°C.

[0061] 2. Amplification reagent preparation and loading:

[0062] a. Take out the corresponding reaction solution from the kit, melt and mix i...

experiment example 3

[0134] Experimental Example 3 Accuracy experiment and results

[0135] The DNA samples of 3 patients with WM who were clinically positive for CXCR4 S338X were selected for detection experiments and compared with the mutation rates detected positive by high-throughput sequencing methods. The experimental results are shown in Table 14.

[0136] Table 14: Accuracy test results of CXCR4 S338X clinical samples

[0137]

[0138] According to the results, the samples of YXX, YX and LXX were positive for CXCR4 S338X mutation, and the mutation rates were 13.60%, 25.00% and 22.80%, respectively. The results were consistent with the frequencies calculated by NGS detection.

experiment example 4

[0139] Experimental example 4: specificity experiment and result

[0140] 23 cases of clinical samples that were negative for CXCR4 S338X by high-throughput sequencing were selected for detection. The experimental results are shown in Table 15.

[0141] Table 15: CXCR4 S338X kit specificity results

[0142]

[0143]

[0144] The above results show that the negative samples detected by the CXCR4 S338X kit are all negative, indicating that the kit has good specificity.

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Abstract

The invention relates to the field of biological detection, in particular to a digital PCR kit, a primer and probe for detecting WM (macroglobulinemia) related gene mutation. The kit contains the primer and the probe which are used for detecting the mutation of the CXCR4S338X site. According to the kit, a digital PCR technology is adopted, the human CXCR4S338X mutation site is quantitatively detected, and reference is provided for curative effect monitoring and clinical medication of clinical doctors on targeted medication of WM patients.

Description

technical field [0001] The invention relates to the field of biological detection, in particular to a digital PCR kit, primers and probes for detecting mutations of genes related to Waldenstrom's macroglobulinemia. Background technique [0002] Waldenstrom macroglobulinemia (WM) is an indolent B-cell tumor first reported by Swedish scholar Jan G. Waldenstrom in 1944. WHO defines it as lymphoplasmacytic lymphoma secreting monoclonal immunoglobulin M (immunoglobulin M, IgM). In 2012, Treon et al confirmed that 91% of WM patients had MYD88 L265P Gene mutation. In 2014, Hunter et al. discovered CXCR4 WHIM Mutations are present in 27% of WM patients. The discovery of these two recurrent somatic mutations opened a new chapter for the diagnosis, treatment and prognosis evaluation of WM. [0003] CXCR4 WHIM The mutation is a somatic mutation that was first identified in WHIM syndrome (an immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infection, and ag...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12Q1/6851C12N15/11
CPCC12Q1/6886C12Q1/6851C12Q2600/156C12Q2600/106C12Q2531/113C12Q2563/107C12Q2563/159Y02A50/30
Inventor 缪祎李建勇朱华渊范磊秦姝超肖晓刘以哲谢立群熊慧
Owner JIANGSU PROVINCE HOSPITAL THE FIRST AFFILIATED HOSPITAL WITH NANJING MEDICAL UNIV
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