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Kit for simultaneously detecting mutations of genes NBPF10, TSFM, PRB2 and DIAPH1

A kit and gene technology, applied in the direction of DNA/RNA fragments, recombinant DNA technology, microbial measurement/inspection, etc., can solve problems such as ataxia

Active Publication Date: 2018-05-01
PEOPLES HOSPITAL PEKING UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Another report showed that TSFM gene defects can lead to juvenile Leigh's disease, ataxia and other diseases, and found that TAFM mutations can cause cardiomyopathy in young children to develop into other diseases

Method used

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  • Kit for simultaneously detecting mutations of genes NBPF10, TSFM, PRB2 and DIAPH1
  • Kit for simultaneously detecting mutations of genes NBPF10, TSFM, PRB2 and DIAPH1
  • Kit for simultaneously detecting mutations of genes NBPF10, TSFM, PRB2 and DIAPH1

Examples

Experimental program
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Embodiment 1

[0093] Example 1. Kits and detection methods for detecting NBPF10, TSFM, PRB2 and DIAPH1 gene mutations

[0094] 1. Kits for detecting NBPF10, TSFM, PRB2 and DIAPH1 gene mutations

[0095] 1. Probe sequence

[0096] The kit for detecting NBPF10, TSFM, PRB2 and DIAPH1 gene mutations of the present invention includes 61 probe sequences, and the names and specific sequences of the 61 probe sequences are shown in Table 1.

[0097] Probe sequence in table 1, detection kit of the present invention

[0098]

[0099]

[0100] 2. Target area detection principle

[0101] The genomic DNA of the sample to be tested was randomly broken into fragments with a length of 180-280bp by a Covaris crusher, and after end repair and A-tailing, adapters were connected to both ends of the fragments to prepare a DNA library. The probe in step 1 was biotin-labeled, and then the DNA library with a specific index was hybridized with the biotin-labeled probe in liquid phase, and then the exons wer...

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Abstract

The present invention discloses a kit for simultaneously detecting mutations of genes NBPF10, TSFM, PRB2 and DIAPH1, wherein the kit comprises a plurality of multi-gene capture probes, can be used fordetecting the somatic mutations and the germline mutations at the tumor genome level, can be used for the assisted diagnosis of patients with hematological tumors (especially acute lymphoblastic leukemia patients), the monitoring of minimal residual diseases, the evaluation of prognosis, and the like, and can provide important effect in the field of medical detection, wherein the detection methodis simple and sensitive.

Description

technical field [0001] The invention belongs to the field of biotechnology, and in particular relates to a kit for simultaneously detecting NBPF10, TSFM, PRB2 and DIAPH1 gene mutations. Background technique [0002] Acute lymphocytic leukemia (ALL) is a malignant blood tumor originating from the lymphatic system. The clinical heterogeneity of ALL is extremely high, and the main clinical manifestations are increased lymphocyte count, anemia, skin and gum bleeding, hepatosplenomegaly, and central nervous system infiltration. It is the first malignant tumor that seriously harms children and young adults in my country. At present, although new drug treatments such as tyrosine kinase inhibitors and hematopoietic stem cell transplantation have significantly improved the complete remission rate and long-term survival rate of ALL patients, there are still about 10-30% of children with ALL and 30-50% of adults with ALL. For patients, the outcome of recurrence and death is inevitabl...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/118C12Q2600/156
Inventor 阮国瑞黄晓军吴利新刘开彦李金兰周娇李玲娣龙玲玉
Owner PEOPLES HOSPITAL PEKING UNIV
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