Method for detecting pathogenic/susceptibility genes of pulmonary arterial hypertension

Abstract

The invention provides application of a reagent for detecting the pathogenic and / or susceptibility genes of pulmonary arterial hypertension in the preparation of products for diagnosing the pulmonaryarterial hypertension. The reagent can capture various pathogenic and / or susceptibility genes of the pulmonary arterial hypertension and can detect 27 related genes at most. The reagent and products containing the same can explain the causes of the pulmonary arterial hypertension, evaluate the risks and risk factors of the pulmonary arterial hypertension and provide reference for individual patient molecular genetic diagnosis, high-risk people screening, high-risk family member screening, corresponding genetic counselling and prenatal diagnosis and intervention so as to reduce the incidence rate of the pulmonary arterial hypertension. A probe set, a chip and a kit in the invention are efficient, many in detection sites, accurate, simple to operate, good in specificity, high in sensitivity,fast, high in practicality and low in cost.

Description

technical field [0001] The invention relates to the technical fields of genetic engineering and molecular genetics, in particular to a probe set and kit for individualized capture and sequencing of pathogenic and / or susceptible genes of pulmonary arterial hypertension. Background technique [0002] Pulmonary arterial hypertension (PAH) is the most common pulmonary vascular disease, with progressive increase in pulmonary artery pressure, diffuse pulmonary arteriolar spasm and pulmonary vascular remodeling as the main pathological changes, eventually leading to death of patients due to right heart failure . Pulmonary hypertension is defined as mean pulmonary arterial pressure (mPAP) ≥ 25 mmHg (1 mmHg = 0.133 kPa) at rest, while pulmonary capillary wedge pressure (PCWP) or left atrial pressure (LAP) ≤ 15 mmHg. Pulmonary hypertension is currently divided into (5th Pulmonary Hypertension Conference in Nice, 2013): arterial pulmonary hypertension (including idiopathic, hereditary...

AI Technical Summary

Problems solved by technology

The second-generation high-throughput sequencing technology (next-generation sequencing technology) has the advantages of fast, accurate, and low cost, and can detect various types of mutations in multiple genes at the same time, and has been widely used in the etiology detection and molecular analysis of genetic defects. Genetic diagnosis, however, so far, there have been no high-throughput probes, chips or kits specifically for the detection of pathogenic and / or susceptibility genes for pulmonary arterial hypertension. The high level remains high, genetic counseling and necessary prenatal interventions cannot be implemented, and patients with this disease that should have been discovered early, identified the cause early, intervened early, and even partially cured cannot receive early attention, which not only brings huge losses to patients and their families. The pain and heavy economic burden of the country have also seriously hindered the substantial improvement of the overall quality of the population in our country.

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