Biological marker relevant to vascular malformation and relevant detection reagent kit

Abstract

The invention relates to the technical field of biology, in particular to a set of biological markers and a relevant detection reagent kit. The invention provides the use of a combination of a substance for detecting Q346P mutation in a TEK gene or an active fragment thereof, a substance for detecting Q279R / R574P mutation in a MMP9 gene or an active fragment thereof, a substance for detecting Y1213Y mutation in a FLT1 gene or an active fragment thereof, and a substance for detecting X278X mutation in a TNFAIP6 gene or an active fragment thereof in a prepared reagent kit. The reagent kit is used for diagnosing vascular diseases and / or assessing the risk of the vascular diseases. The biological marker provided by the invention can avoid complete genome sequencing, so that needed sequencing data number can be greatly reduced, and the biological marker has excellent detection sensibility and specificity, and is low in cost, high in depth and accurate in detection on relevant mutation.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a group of biomarkers related to vascular malformation and related detection kits. Background technique [0002] Venous malformation (VM) is a common congenital anomaly of vascular development, with an incidence of about 1% in the population, of which nearly 40% are located in the head and face. The disease has been present since the patient was born and cannot subside on its own. It will gradually progress and aggravate with age. In mild cases, it will affect the appearance, and in severe cases, it will cause bleeding, infection, swelling, pain, suffocation, etc., and even lead to serious functional damage or death. . Among them, some patients can be hereditary in families, and the lesions of familial hereditary venous malformation are more diverse, changeable in location, and wider in scope, causing great trouble and burden to the family and social life of patients. [0003] Amon...

AI Technical Summary

Problems solved by technology

[0007] However, most of the mutation research results are for foreign populations, and only involve the mutation detection of a single or a few genes. The detection sites cover a wide range, and it is even more difficult to represent the mutation of local lesions.

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