Biological marker relevant to vascular malformation and relevant detection reagent kit

A technology for detection kits and biomarkers, applied in the biological field, can solve the problems of somatic mutations that cannot represent local lesions

Active Publication Date: 2019-06-07
SHANGHAI NINTH PEOPLES HOSPITAL SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
View PDF7 Cites 7 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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.

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Biological marker relevant to vascular malformation and relevant detection reagent kit
  • Biological marker relevant to vascular malformation and relevant detection reagent kit
  • Biological marker relevant to vascular malformation and relevant detection reagent kit

Examples

Experimental program
Comparison scheme
Effect test

preparation example Construction

[0038] The biomarkers provided by the present invention are obtained through liquid-phase capture probes for a large number of genes related to venous malformation, and the target gene high-throughput parallel targeted sequencing method is used to determine the sequence of the subject and then screened. Malformation-related genes include: TEK (Gene ID: 7010), ENG (Gene ID: 2022), FLT1 (Gene ID: 2321), ACVRL1 (Gene ID: 94), KDR (Gene ID: 3791), RASA1 (Gene ID: 5921), MMP9 (Gene ID: 4318), PIK3CA (Gene ID: 5290), GLMN (Gene ID: 11146), TNFAIP6 (Gene ID: 7130), etc. The design and preparation method of the liquid-phase capture probe should be known to those skilled in the art. In a specific embodiment of the present invention, the method for preparing the gene RNA liquid-phase probe includes: (1) according to each gene code The positive strand of the sequence design probe sequence, from 5' to 3' direction, according to the principle of sequence reverse complementarity, appropriat...

Embodiment 1

[0046] 1. Preparation of kits for pathogenic genes related to venous malformation

[0047] The kit includes a venous malformation-related pathogenic gene DNA probe library prepared by the following method:

[0048] (1) According to the human reference genome HG19, combined with Ensembl, CCDS, Gencode, VEGA, SNP and CytoBand databases, obtain the coding sequences of the following venous malformation-related pathogenic genes: TEK, ENG, FLT1, ACVRL1, KDR, RASA1, MMP9, PIK3CA , GLMN, TNFAIP6;

[0049] (2) For the coding sequence of each gene, from 5' to 3' direction, according to the principle of sequence reverse complementarity, appropriately extend at both ends of the target region, the design length is 55-120nt, and the overall average length is 100nt Left and right, through the 3X shingled design, each base has three probes with different sequences to cover, to ensure the capture efficiency of the base, and to increase the probe layer for regions with extremely high or low GC...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to view more

PUM

No PUM Login to view more

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...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to view more

Application Information

Patent Timeline
no application Login to view more
Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
Inventor 杜仲刘嘉靓王延安
Owner SHANGHAI NINTH PEOPLES HOSPITAL SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Try Eureka
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap