Marfan syndrome detection kit based on FBN1 gene insertion mutation

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

Active Publication Date: 2022-03-01
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 individu...

Method used

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  • Marfan syndrome detection kit based on FBN1 gene insertion mutation
  • Marfan syndrome detection kit based on FBN1 gene insertion mutation
  • Marfan syndrome detection kit 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 Verification Experiment

[0045] 1. Sample collection and clinical data collection

[0046] On the premise that the proband and his family members voluntarily signed the informed consent form, about 5mL whole blood samples were collected in Shenzhen Eye Hospital and stored in low-temperature refrigeration conditions, and a medical record database was established to record in detail the proband’s condition, family status and other information . This study was approved by the Ethics Committee of Shenzhen Eye Hospital.

[0047] 2. Preparation of Genomic DNA

[0048] A commercially available DNA extraction kit was used to extract whole genome DNA from human whole blood EDTA anticoagulated samples, and to detect the concentration and purity of DNA.

[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 FBN1 g...

Embodiment 3

[0079] Example 3. Repeatability detection

[0080] The method described in Example 2 of the present invention was used to repeatedly test the blood samples of one Marfan syndrome patient and one healthy person three times, and the test results are shown in Table 5 below.

[0081] Table 5. Repeatability test results

[0082] sample patient healthy person the first time Positive Negative the second time Positive Negative the third time Positive Negative

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

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Abstract

The invention provides a Marfan syndrome detection kit based on FBN1 gene c.5688-5689 insertion mutation, and belongs to the technical field of molecular biological detection. Whole blood DNA of Marfan syndrome family members is subjected to base sequence analysis, c.5688-5689insG base insertion variation (p.Arg1897Glufs) of the FBN1 gene is detected in family diseased members, and the variation is not detected in non-diseased members in the family. By detecting whether a subject carries the FBN1 gene c.5688-5689 insertion mutation or not, a carrier of the variation can be detected, molecular diagnosis and family genetic analysis of the Marfan syndrome can be facilitated, meanwhile, the relationship between gene mutation and clinical phenotype can be researched, a basis is provided for antenatal diagnosis possibly needed in the future, and the application prospect is wide. Meanwhile, a new target spot is provided for research and development of medicines for treating Marfan syndrome.

Description

technical field [0001] The present 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 (Marfan syndrome) is an autosomal dominant systemic connective tissue disease with an incidence rate of 2 / 10000-3 / 10000. Marfan syndrome often involves multiple systems including the cardiovascular, ocular, and skeletal systems. The main clinical manifestations of patients are slender stature, spider-like fingers, scoliosis, pectus excavatum or chicken breast, ectopic or dislocated lens of the eye, high myopia, retinal detachment, cardiac aortic dilation, 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 more than t...

Claims

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Application Information

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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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