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DDX24 gene mutation and application thereof

A technology of DDX24, 1.DDX24, applied in the field of molecular biology

Active Publication Date: 2018-05-11
THE FIFTH AFFILIATED HOSPITAL SUN YAT SEN UNIV
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AI Technical Summary

Problems solved by technology

No reports have shown that DDX24 is associated with vascular malformations

Method used

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  • DDX24 gene mutation and application thereof
  • DDX24 gene mutation and application thereof
  • DDX24 gene mutation and application thereof

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Embodiment Construction

[0021] The inventors analyzed a 4-generation family with hereditary CTPV and hepatic portal vein stenosis, in which other abnormalities were also present in some affected members, including chylothorax and pulmonary stenosis. In order to determine the genetic basis of this comprehensive disease and other similar phenotypes, and further analyze its pathophysiological basis, the inventors conducted in-depth research and analysis on it.

[0022] The first witness in this family was brought to the inventor's attention by the inventor for refractory chylothorax. Following clinical observation, the entire family was reviewed, with a total of 52 members spanning 4 generations, and a total of 9 affected members. Seven living patients were included in the study ( figure 1 ). The medical histories, including imaging records, of two deceased patients in the family were also studied. Also included in the study were 10 patients with sporadic congenital CTPV and 151 patients with congeni...

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Abstract

The invention discloses DDX24 gene mutation and an application thereof. The DDX24 gene SNP (single-nucleotide polymorphism) mutation comprises Glu271Lys, Lys11Glu and Arg436His. The DDX24 gene mutation Glu271Lys, Lys11Glu or Arg436His is remarkably correlated with development of vessels. By means of interference to DDX24, cell migration and vascular formation can be promoted, and occurrence of vascular malformation is reminded. The occurrence condition of the vascular malformation of a human body can be effectively predicted by detecting SNP loci of DDX24, the DDX24 gene mutation can be used for screening genetic defects and is beneficial to true judgment of types of abnormal diseases of the vessels, misdiagnosis is reduced, and specific treatment is convenient.

Description

technical field [0001] The invention belongs to the field of molecular biology and relates to a novel gene mutation and a new application based on the gene. Background technique [0002] Among the liver-related diseases, the portal vein and hepatic portal vein malformation imply serious health problems, among which, the incidence rates of portal cavernous degeneration (CTPV) and Budd-Chiari syndrome (BCS) are relatively high. The common feature of both diseases is the narrowing or occlusion of the venous canal and the formation of bypass channels. Local and systemic factors, such as trauma, inflammation, external pressure, hemodynamic changes, hypercoagulable state, etc., are all inducers of CTPV or BCS. However, some patients with CTPV or BCS have no definite etiology, and most of them have a poor prognosis due to the lack of accurate diagnosis and reasonable treatment. It has been reported that gene mutations, such as JAK2 and other gene mutations, are related to BCS, bu...

Claims

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Application Information

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IPC IPC(8): C12N15/55C12Q1/6883A61K45/00A61P9/00
CPCA61K45/00C12N9/14C12Q1/6883C12Q2600/156C12Y306/04013A61K45/06C12Q1/6827C12Q1/6844C12Q2600/112
Inventor 单鸿庞鹏飞胡晓俊毛军杰
Owner THE FIFTH AFFILIATED HOSPITAL SUN YAT SEN UNIV
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