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A detection kit for Marfan syndrome based on fbn1 gene insertion mutation

A detection kit and insertion mutation technology, applied in biological testing, microbial determination/inspection, measurement devices, etc., can solve problems such as difficult early diagnosis, large individual differences, etc., achieve simple operation, good accuracy, and reduce disease Effects of Rate and Mortality

Active Publication Date: 2022-06-24
SHENZHEN EYE HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the clinical symptoms of patients are complex and diverse, and individual differences are large, so it is difficult to diagnose early by using this principle

Method used

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  • A detection kit for Marfan syndrome based on fbn1 gene insertion mutation
  • A detection kit for Marfan syndrome based on fbn1 gene insertion mutation
  • A detection kit for Marfan syndrome based on fbn1 gene insertion mutation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0041] Example 1. FBN1 gene c.5688-5689 (p.Arg1897Glufs) insertion mutation detection kit The components of the kit described in Example 1 are described in Table 1 below.

[0042] Table 1. Kit Components

[0043]

Embodiment 2

[0044] Example 2. Patient / Carrier Validation Experiment

[0045] 1. Sample collection and clinical data collection

[0046] On the premise that the proband and his family voluntarily signed the informed consent, a whole blood sample of about 5 mL was drawn in Shenzhen Eye Hospital and stored in a low temperature refrigeration condition. . This study was approved by the Ethics Committee of Shenzhen Eye Hospital.

[0047] 2. Preparation of Genomic DNA

[0048] Whole genome DNA was extracted from human whole blood EDTA anticoagulant samples using commercially available DNA extraction kits, and the concentration and purity of DNA were detected.

[0049] 3. PCR primer design

[0050] According to the DNA sequence of the FBN1 gene in the NCBI database (https: / / www.ncbi.nlm.nih.gov / ), primers were designed upstream and downstream of the mutation position of the FBN1 gene. The specific primer sequences are shown in Table 2.

[0051] Table 2. Primer Information

[0052]

[005...

Embodiment 3

[0079] Example 3. Repeatability detection

[0080] Using the method described in Example 2 of the present invention, the blood samples of 1 patient with Marfan syndrome and 1 healthy person were repeatedly detected three times, and the detection results are shown in Table 5 below.

[0081] Table 5. Repeatability test results

[0082] sample patient healthy person the first time positive feminine the second time positive feminine the third time positive feminine

[0083] The above detection results show that the sites and detection primers described in this application have good repeatability.

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Abstract

The invention provides a Marfan syndrome detection kit based on the c.5688-5689 insertion mutation of FBN1 gene, which belongs to the technical field of molecular biological detection. The present invention detects the c.5688‑5689insG base insertion variation (p.Arg1897Glufs) of the FBN1 gene in the affected members of the family by analyzing the base sequence of the whole blood DNA of the family members with Marfan syndrome. None of the affected members had the variant detected. By detecting whether the subject carries the c.5688-5689 insertion mutation of the FBN1 gene, the carrier of the mutation can be detected, which is helpful for the molecular diagnosis and family genetic analysis of Marfan syndrome, and can also study the relationship between gene mutation and clinical phenotype. The relationship between them provides the basis for the prenatal diagnosis that may be needed in the future, and at the same time provides a new target for the development of drugs for Marfan syndrome.

Description

technical field [0001] The invention relates to the technical field of molecular biological detection, in particular to a Marfan syndrome detection kit based on FBN1 gene insertion mutation, in particular to a Marfan syndrome detection kit based on FBN1 gene c.5688-5689 insertion mutation . Background technique [0002] Marfan syndrome is an autosomal dominant, systemic connective tissue disorder with an incidence of 2 / 10000-3 / 10000. Marfan syndrome often accumulates cardiovascular, ocular, and skeletal systems. The main clinical manifestations of patients are slender stature, spider-like fingers, scoliosis, pectus excavatum or chicken breast, ocular lens heterotopia or dislocation, high myopia, retinal detachment, and cardiac aortic dilatation, aortic dissection, mitral valve prolapse and Aortic regurgitation, etc. At present, the diagnosis of Marfan is mainly based on the Ghent principle. Only when there are signs of more than two systems can the diagnosis of Marfan syn...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6858C12Q1/6869G01N33/68
CPCC12Q1/6858C12Q1/6869G01N33/6893C12Q2600/156G01N2800/10C12Q2563/107C12Q2531/113C12Q2535/101C12Q2545/114C12Q2565/131
Inventor 刘欣华汪建涛刘鑫唐爱发聂丹瑶曾琨张静张利云白宗侠
Owner SHENZHEN EYE HOSPITAL
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