BMPR2 gene mutant and application

Abstract

The invention belongs to the technical field of genes, and particularly discloses a BMPR2 gene mutant and an application. The invention relates to nucleic acid, a polypeptide and gene mutation. The nucleic acid comprises the following target fragment, and compared with a wild type BMPR2 gene, the target fragment has c. (1122+m)_(1122+m+3n) del mutation. Compared with a wild type BMPR2, the polypeptide has p.Ser375Ala fsTer14 mutation. Compared with a wild type BMPR2 gene, the gene mutation has c.(1122+m)_(1122+m+3n)del mutation. The invention relates to an application of a detection reagent to preparation of an arterial disease screening reagent, the detection reagent is at least one of the following detection reagents of the nucleic acid, the detection reagent of the polypeptide and the detection reagent of the gene mutation. A medicine for preventing and treating arterial related diseases contains an inhibitor of the mutation. The invention provides a new mutation site related to artery related diseases, especially pulmonary arterial hypertension, provides a new scheme for diagnosis and treatment of the diseases, and also provides related medicines capable of preventing and treating the diseases.

Description

technical field [0001] The invention belongs to the field of gene technology, and in particular relates to a BMPR2 gene mutant and its application. Background technique [0002] Pulmonary hypertension (PH) in children is a complex group of diseases, with an incidence rate ranging from 20.0 / 100,000 to 63.7 / 100,000, which is significantly higher than that of adults. PH is mainly manifested as a persistent increase in pulmonary vascular resistance and progressive failure of right heart function, which can occur in all age groups. The clinical manifestations lack specificity, the diagnosis is relatively difficult, and the mortality rate is high. In order to further standardize the diagnosis and treatment of PH in children, my country has formulated the "Expert Consensus on the Diagnosis and Pretreatment of Children's Pulmonary Hypertension". Pulmonary hypertension (PH) in children is an increase in pulmonary circulation pressure caused by various reasons, including pulmonary art...

AI Technical Summary

Problems solved by technology

[0004] There are two modes of action of BMPR2 gene mutation: (1) BMPR2 gene mutation can inhibit the function of wild-type BMPR2, resulting in pulmonary hypertension; (2) haploinsufficiency, a simple heterozygous mutation of BMPR2 gene is not enough to cause pulmonary hypertension

However, it is still unable to explain the phenomenon that the family members of the family with BMPR2 gene mutation carry the BMPR2 gene mutation without the clinical phenotype of pulmonary arterial hypertension. Therefore, it is also speculated that there is a mechanism of somatic secondary mutation. The heterozygote has no clinical phenotype of pulmonary arterial hypertension at birth. Under the action of environmental factors, somatic cells mutate again to cause disease, which can also explain the phenomenon of disease at all ages

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