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Biomarker for detecting fanconi anemia and detecting kit

A biomarker and kit technology, applied in the field of molecular biology, can solve the problems of limitations, low detection efficiency and accuracy, and achieve high detection rate and high detection efficiency

Inactive Publication Date: 2019-04-19
天津见康华美医学诊断技术有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] The technical problem to be solved by the present invention is that the current method for early diagnosis of Fanconi anemia is relatively limited, especially the problems of low detection efficiency and accuracy in the prior art

Method used

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  • Biomarker for detecting fanconi anemia and detecting kit
  • Biomarker for detecting fanconi anemia and detecting kit
  • Biomarker for detecting fanconi anemia and detecting kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0040] Example 1 Screening of Fanconi Anemia Mutation Gene Group in Chinese Population

[0041] Materials and methods: Among the patients diagnosed from May 2018 to August 2018 in Hematology Hospital of Chinese Academy of Medical Sciences and Union Medical Diagnostic Center, according to the following criteria, we conducted continuous enrollment (12 patients).

[0042] Inclusion criteria: patients with pancytopenia and suspected Fanconi anemia after clinical symptoms and relevant laboratory tests, and clinicians need to perform genetic testing to confirm whether it is Fanconi anemia. The diagnostic results of the 12 patients are shown in Table 3.

[0043] Table 3 List of patient diagnosis results

[0044]

[0045]

[0046] Extraction of DNA to be tested: 3 mL of peripheral blood was collected from patients to extract genomic DNA for testing, which was approved by the Ethics Committee of the Hematology Hospital, Chinese Academy of Medical Sciences.

[0047] Sample process...

Embodiment 2

[0060] The primers required for the synthetic detection kit of embodiment 2

[0061] Primer design: for the mutation site described in the present invention, use the Primer6.0 software to design multiple PCR primers required for amplification, and finally find that the composite amplification primer sequence shown in Table 2 can achieve a balanced or complete amplification result, All mutation sites are amplified with relatively close efficiency.

[0062] Primer synthesis: send the designed primers to the synthesis company for synthesis.

Embodiment 3

[0063] Example 3 Utilize the kit described in Example 2 to detect Fanconi anemia patient samples

[0064] Collect 3mL of the peripheral blood of the patient described in Example 1, extract genomic DNA, use the genomic DNA stock solution containing the mutant gene sequence in the mutant gene group described in the present invention as a positive control, and use the DNA derived from a healthy person that does not contain the mutant gene after confirmation. The genomic DNA sequence storage solution of the sequence was used as a negative control; sample processing, library construction, template preparation and sequencing reactions were the same as in Example 1. The positive rates of 19 genes detected in 12 patients are shown in Table 4 below.

[0065] Table 4 List of positive rates of 19 genes

[0066] mutant gene

[0067] After statistics, it was shown that 3 of the 12 patients were detected as Fanconi anemia (all in line with compound heterozygous mutations), and the...

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Abstract

The invention provides a biomarker for detecting the fanconi anemia and a detecting kit, and belongs to the technical field of molecular biology. The biomarker for detecting the fanconi anemia is a mutant gene group including 19 genes of FANCA, FANCB, FANCC and the like, and an explicit sub-region of the biomarker carries 155 mutation sites in total. The detecting kit comprises primers for amplifying the mutant genes in the mutant gene group of the fanconi anemia. The kit has the advantages of being high in detecting efficiency, wide in mutant gene coverage, high in detection rate and the like; medical interpretation reports given through the detecting kit are more accurate and authoritative.

Description

technical field [0001] The invention belongs to the field of molecular biology, and in particular relates to a group of biomarkers and detection kits for detecting Fanconi anemia. Background technique [0002] Fanconi anemia is a genetically heterogeneous disease characterized by congenital body deformities, bone marrow hematopoietic failure, and tumor susceptibility. Patients with this disease are often accompanied by congenital body deformities, common bone deformities, and may also have visceral deformities, eye, ear or genital deformities, etc.; the most serious clinical feature of the disease is abnormal blood system, and most patients are born or young. Symptoms such as hemorrhage, infection, endocrine disorders, and low immunity occur, and one or more lineages of blood cells decrease progressively, and it is easy to develop into bone marrow hematopoietic failure; in addition, patients with this disease are prone to acute myeloid leukemia (AML) ) and myelodysplastic s...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883
Inventor 汝昆蔺亚妮
Owner 天津见康华美医学诊断技术有限公司
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