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Gene mutation for diagnosing Marfan syndrome

A syndrome and gene technology, applied in the field of medical diagnosis, can solve the problems of incompletely clear pathogenesis and damage to the stability of elastic fibers, and achieve the effect of reducing the misdiagnosis rate, easy detection and accurate diagnosis.

Pending Publication Date: 2020-08-28
THE SECOND HOSPITAL OF HEBEI MEDICAL UNIV
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AI Technical Summary

Problems solved by technology

(2) FBN1 plays an important role in maintaining the stability of elastic fibers, and the mutation of FBN1 gene destroys the stability of elastic fibers
[0005] Like most diseases, MFS is the result of a combination of genetics and the environment, and its pathogenesis is not fully understood

Method used

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Examples

Experimental program
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Effect test

Embodiment 1

[0033] Example 1 Gene Mutation Screening for Marfan Syndrome Patients and Family Members

[0034] A 37-year-old male was admitted to the hospital mainly because of "intermittent chest tightness and shortness of breath for more than 4 months, which aggravated for half a month". The patient developed chest tightness and shortness of breath after catching a cold 4 months ago, accompanied by inability to lie down at night, accompanied by cough and sputum, accompanied by fever, the specific body temperature is unknown, accompanied by poor appetite, accompanied by decreased urine output, no nausea, vomiting, dizziness, or headache He went to a local hospital to consider "pneumonia due to heart failure" and was given treatment to correct heart failure and anti-infection. The symptoms improved slightly and he was discharged. After discharge from the hospital, the above-mentioned symptoms still occurred intermittently, and the nature and degree were the same as before. They received in...

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Abstract

The invention discloses a gene mutation for diagnosing Marfan syndrome. The mutation is c.5651_5664del:p.D1884fs. Through second-generation sequencing, it is founded that c.5651_5664del on a FBN1 geneexists in a genome of a patient who is diagnosed with Marfan syndrome, but the mutation is not found in control population, so the gene mutation can be used as biomarkers for the diagnosis of Marfansyndrome.

Description

technical field [0001] The invention belongs to the field of medical diagnosis and relates to a gene mutation for diagnosing Marfan syndrome. Background technique [0002] Marfan syndrome (Marfan syndrome, MFS) is an autosomal dominant genetic connective tissue disease, mainly manifested as cardiovascular, ocular and skeletal symptoms, with cardiovascular complications being the most serious, of which aortic aneurysm and dissection are the main causes of death. the main reason. The diagnosis of MFS is mainly based on the Ghent criteria revised in 2010, in which genetic testing is of great significance. Eight MFS-related genes have been found so far, including fibrillin-1 (FBN1) gene, fibrillin-2 (FBN2) gene, transforming growth factor beta receptor 1 (TGFBR1) gene, transforming growth factor beta receptor 2 gene (TGFBR2) gene, etc. [0003] The FBN1 gene is the first to be discovered and the most frequently mutated MFS pathogenic gene. Currently, more than 3,000 FBN1 gene...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 肖冰李玥杨秀春鲁静朝刘凡
Owner THE SECOND HOSPITAL OF HEBEI MEDICAL UNIV
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