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Pulmonary arterial hypertension associated mutant BMP9 gene and application thereof

A pulmonary arterial hypertension, mutation-type technology, applied in the direction of microbial determination/inspection, in vivo test preparations, biochemical equipment and methods, etc., can solve the problem of pathogenic genes far from explaining the genetic etiology of PAH patients and the etiology of IPAH patients Unknown and other issues

Active Publication Date: 2018-03-06
FUWAI HOSPITAL CHINESE ACADEMY OF MEDICAL SCI +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the known causative genes are far from explaining the genetic etiology of PAH patients, and the etiology of 60%-80% of IPAH patients is completely unknown

Method used

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  • Pulmonary arterial hypertension associated mutant BMP9 gene and application thereof
  • Pulmonary arterial hypertension associated mutant BMP9 gene and application thereof
  • Pulmonary arterial hypertension associated mutant BMP9 gene and application thereof

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Experimental program
Comparison scheme
Effect test

Embodiment 1

[0093] research population

[0094] Patient group: Patients with pulmonary arterial hypertension were selected from Shanghai Pulmonary Hospital Affiliated to Tongji University and Fuwai Hospital of Chinese Academy of Medical Sciences. All patients underwent right heart catheterization. The diagnostic criteria for PAH were: mean pulmonary artery pressure (mPAP) ≥ 25 mmHg and pulmonary capillary wedge pressure (PCWP) ≤ 15 mmHg measured by right heart catheterization at sea level at rest. After excluding all known secondary factors causing PAH, the patient was diagnosed with idiopathic PAH. Finally, 269 IPAH patients were selected.

[0095] Control group 1: 1884 cases of healthy controls were selected from Beijing Novogene Technology Co., Ltd. Both the case group and the control group were of Chinese Han nationality and had no blood relationship. Genomic DNA was extracted from peripheral blood leukocytes of patients and controls.

[0096] Control group 2: The whole exome sequ...

Embodiment 2

[0135] The 16 IPAH patients carrying 16 kinds of BMP9 gene variations in the detection example 1 carry the BMP9 genome sequence in the blood, BMP9 has 2 exons, the exon sequence can be amplified by PCR method, and the amplified product can be detected by Sanger sequencing method sequence.

[0136] 1 Reagent:

[0137] (1) Human Blood Genomic DNA Purification Kit DP318-02 (Tiangen Biochemical Technology, Beijing, China);

[0138] (2) 10% SDS: Dissolve 10.0g SDS in 90ml water, adjust pH to 7.2, add water to make up to 100ml;

[0139] (3) TE: 10mM Tris-HCl (pH 8.0), 1mM EDTA-Na2 (pH 8.0);

[0140] (4) 50X TAE electrophoresis buffer: 242.0g Tris-HCl, 27.5ml glacial acetic acid, 100ml 0.5mM EDTA-Na2, final volume 1 liter;

[0141] (5) All restriction endonucleases were purchased from New England Biolabs, USA;

[0142] (6) The primers used were purchased from Beijing Aoke Biological Company.

[0143] 2 Instruments and equipment:

[0144] (1) PCR instrument: DNA engine American ...

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Abstract

The invention discloses a pulmonary arterial hypertension associated mutant BMP9 gene and application thereof and relates to the field of pulmonary arterial hypertension diseases. Study in the invention is performed by utilizing whole genome sequencing and whole-exome sequencing. Rare heritable variation of the BMP9 genes is discovered to be obviously enriched in a PAH (Pulmonary Arterial Hypertension) patient first all over the world, and the BMP9 genes are mutated, so that occurrence risk of the PAH rises by 17.5 times (P is equal to 5.2E-11). The results show that the mutant BMP9 genes or corresponding mutant BMP9 proteins can serve as biomarkers of the pulmonary arterial hypertension so as to be used for diagnosing whether the patients suffer from the pulmonary arterial hypertension orevaluating risk of the patients suffering from the pulmonary arterial hypertension, or used for pre-pregnancy early warning to indicate risk of mutant BMP9 gene carrier offspring suffering from the pulmonary arterial hypertension, and can further serve as targets of pulmonary arterial hypertension associated drugs so as to provide a brand new thought or means for treatment or prevention of pulmonary arterial hypertension diseases.

Description

technical field [0001] The invention relates to the field of pulmonary arterial hypertension, in particular to a mutant BMP9 gene related to pulmonary arterial hypertension and its application. Background technique [0002] Pulmonary arterial hypertension (PAH) is a type of cardiovascular disease characterized by a progressive increase in pulmonary artery pressure and a gradual increase in pulmonary vascular resistance, eventually leading to right heart failure and death. PAH can present at any age, has insidious symptoms, and is difficult to diagnose. The pathological mechanism of PAH is very unclear, the prognosis of patients is poor, the median survival time is only 2.8 years, and the 5-year survival rate is only 21%. PAH has become an important public health problem in our country, bringing a heavy burden to society and families. [0003] Genetic variation is an important factor affecting the occurrence of PAH. At present, seven PAH pathogenic genes have been found, n...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883G01N33/68A61K49/00
CPCA61K49/0008C12Q1/6883C12Q2600/156G01N33/6893G01N2333/51G01N2800/32
Inventor 荆志成王晓建蒋鑫彭富华颜艺杜瑶杨淑慧刘倩倩孙凯徐希奇
Owner FUWAI HOSPITAL CHINESE ACADEMY OF MEDICAL SCI