BMPR2 gene mutant and application

A gene and nucleic acid technology, applied in BMPR2 gene mutants and application fields, can solve the problems of haploinsufficiency and inexplicability

Pending Publication Date: 2022-01-11
湖北省妇幼保健院
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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 BM

Method used

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  • BMPR2 gene mutant and application
  • BMPR2 gene mutant and application
  • BMPR2 gene mutant and application

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Embodiment Construction

[0046] The present invention will be further described below:

[0047] The first aspect of the present invention discloses the following content:

[0048] Nucleic acid, comprising the following target fragments,

[0049] Compared with the wild-type BMPR2 gene (one is SEQ ID: NO.1), the target fragment has at least one of c.(1122+m)_(1122+m+3n) del mutations, m and n are Natural numbers, n≤13; preferably, m≤39, more preferably, m≤1. The mutation type sites described in this paragraph vary with the values ​​of m and n. Among these, one form of nucleic acid is DNA.

[0050] The foregoing has several forms of deletion mutations, when multiple deletion mutations coexist: in some cases, any two deletion mutation sites do not overlap, of course, in other cases, even if the sites overlap, as long as it is consistent with the present invention If it is related to the related diseases targeted, the content of the mutation method should also be within the scope of the present inven...

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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...

Claims

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Application Information

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IPC IPC(8): C12N15/12C07K14/71C12Q1/6883G01N33/68C12N15/11A61K45/00A61P9/12A61P11/00
CPCC07K14/71C12Q1/6883G01N33/6893A61K45/00A61P9/12A61P11/00C12Q2600/156G01N2800/12G01N2800/321G01N2333/71
Inventor 李恒涂丹娜陈倩文李红平胡柯刘万里姚丽丹熊伶俐从晶晶廖蔻
Owner 湖北省妇幼保健院
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