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Pulmonary hypertension virulence gene ACVRL1 mutation site and application thereof
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A gene and amino acid technology, applied in the field of pulmonary arterial hypertension pathogenic gene ACVRL1 mutation site, can solve the problem that the disease pathogenic gene cannot be completely determined
Active Publication Date: 2015-05-27
BEIJING INST OF HEART LUNG & BLOOD VESSEL DISEASES
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[0003] The earliest method to identify the causative gene and mutation of PAH is the candidate gene method, which cannot completely determine the causative gene of the disease
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Embodiment 1
[0041] Example 1. Application of whether the ACVRL1 gene is mutated in identifying whether the sample to be tested is a patient with pulmonary arterial hypertension
[0042] The pedigree of a sample of a patient with pulmonary arterial hypertension to be tested is as follows figure 1 The right side is shown in (I.2, II.2, III.4, III.5, III.6, III.7, III.8, IV.4, IV.5, IV.6), in which pulmonary hypertension There were 3 patients (III.5, III.7, IV.4), and the rest were non-pulmonary hypertension patients.
[0043] Sanger sequencing verifies the results of ACVRL1 gene mutations in each sample in the family of samples from patients with pulmonary arterial hypertension to be tested, as follows:
[0044] 1. Take the anticoagulated whole blood of the sample to be tested, and extract the genomic DNA with the QIAGEN DNA extraction kit;
[0059] The ACVRL1 wild-type plasmid is a vector obtained by inserting the sequence 1 in the sequence table between the EcoR1 and BamHI sites of the pcDNA3.1 vector (Addgene, #20011).
[0060] The ACVRL1 mutant plasmid is a vector obtained by inserting sequence 2 in the sequence table (replacing G at position 955 of sequence 1 with C, and other nucleotides remain unchanged) inserted between the EcoR1 and BamHI sites of the pCDNA3.3 vector.
[0062] TGF-β receptors belong to cell surface receptors, including two types --- type I and type II, which itself has a serinekinase catalytic domain. When the ligand TGF-β binds to it, the effect produced makes the downstream type Important transcription factorSmad family serinephosphorylation. Activin receptor-like kinase 1 (ACVRL1 / ALK1) co...
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Abstract
The invention discloses a pulmonary hypertensionvirulencegene ACVRL1 mutation site and an application thereof. The amino acid sequence of a protein provided by the invention is sequence 4. The DNA molecule of the protein is coded and the nucleotide sequence of the DNA molecule is sequence 2. The experiment shows that the novel ACVRL1 genemutation site is related to the pulmonary hypertension, by means of detecting whether the novel genemutation site is the mutation site, whether the sample to be tested suffers from pulmonary hypertension can be predicted; and the novel gene mutation site can be used as a target for treating the pulmonary hypertension, and a new therapy pathway for researching the pulmonary hypertension drugs can be provided. The cell experiment verifies that the ACVRL1 gene mutation site is capable of reducing the SMAD1 and SMAD5 proteinphosphorylation and / or increasing the BMP transcriptional activity in the cell.
Description
technical field [0001] The invention relates to the field of biotechnology, in particular to the ACVRL1 mutation site of the pulmonary arterial hypertension pathogenic gene and its application. Background technique [0002] Pulmonary arterial hypertension (PAH) is an extremely serious disease. Although the application of some new drugs and gene therapy, living donor lungtransplantation, atrial septostomy and other new treatments in recent years has improved the average survival rate of patients in 5 or 10 years, most of the treatment options are only to relieve symptoms, but not to change the disease. course and clinical consequences. One of the important reasons is that the pathogenic mutation of PAH is not yet fully understood, and the relationship between its pathogenesis and clinical phenotype has not yet been clarified. Bone morphogenic protein type 2 receptor, serotonin, serotonintransporter, prostacyclinreceptor, prostacyclin synthase, voltage-gated potassium cha...
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