Pulmonary hypertension virulence gene ACVRL1 mutation site and application thereof

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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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[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

Method used

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  • Pulmonary hypertension virulence gene ACVRL1 mutation site and application thereof
  • Pulmonary hypertension virulence gene ACVRL1 mutation site and application thereof
  • Pulmonary hypertension virulence gene ACVRL1 mutation site and application thereof

Examples

Experimental program
Comparison scheme
Effect test

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;

[0045] 2. Genomic DNA was sent to Sanger sequencing

[0046] The sequencing primers are as follows:

[0047] c.955G>CF-ACGACTCCAGCCTCCCTTAG (Seque...

Embodiment 2

[0057] Embodiment 2, the application of ACVRL1 mutein

[0058] 1. Preparation of ACVRL1 wild-type plasmid and mutant plasmid

[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.

[0061] 2. Detection of SMAD1 / 5 phosphorylation level using plasmid

[0062] TGF-β receptors belong to cell surface receptors, including two types --- type I and type II, which itself has a serine kinase catalytic domain. When the ligand TGF-β binds to it, the effect produced makes the downstream type Important transcription factor Smad family serine phosphorylation. Activin receptor-like kinase 1 (ACVRL1 / ALK1) co...

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Abstract

The invention discloses a pulmonary hypertension virulence gene 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 gene mutation site is related to the pulmonary hypertension, by means of detecting whether the novel gene mutation 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 protein phosphorylation 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 lung transplantation, 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, serotonin transporter, prostacyclin receptor, prostacyclin synthase, voltage-gated potassium cha...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C07K14/47C12N15/12C12N15/85C12N1/21C12N1/15C12N1/19C12Q1/68
CPCC07K14/71C12Q1/6883C12Q2600/156
Inventor 杜杰朴春梅顾虹朱燕习昕刘旭霞李晓燕郭俊
Owner BEIJING INST OF HEART LUNG & BLOOD VESSEL DISEASES
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