Kits and applications for predicting and screening adolescent idiopathic scoliosis

A scoliosis, idiopathic technology, applied in the field of biomedicine, can solve the problem of unclear pathogenic factors of scoliosis, and achieve the effect of preventing rapid development

Active Publication Date: 2022-02-18
JINAN UNIVERSITY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] The purpose of the present invention is to solve the technical problems in the prior art that the pathogenic factors of juvenile idiopathic scoliosis are unclear and difficult to prevent in advance, thereby providing a method for predicting and screening juvenile idiopathic scoliosis Kit

Method used

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  • Kits and applications for predicting and screening adolescent idiopathic scoliosis
  • Kits and applications for predicting and screening adolescent idiopathic scoliosis
  • Kits and applications for predicting and screening adolescent idiopathic scoliosis

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0111] Example 1 Analysis of AIS pathogenic genes

[0112] Blood samples were collected from AIS patients and other 3 AIS patients in their families, and DNA fragments were extracted. The specific steps are as follows:

[0113] (1) Take 400 μL of venous blood, add 1 mL of RCL to the blood sample, invert and mix several times, and place at room temperature for 5 minutes;

[0114] (2) Centrifuge at 10,000×g for 3 minutes, remove the supernatant, and leave the leukocyte pellet;

[0115] (3) Add 200 μL of B3 and 2 μl of Proteinase K, vortex and mix immediately, place at 65°C for 10 minutes, mix several times during this period, and the solution should become clear;

[0116] (4) Add 200 μL of isopropanol, invert and mix well, at this time, filamentous or clustered genomic DNA may appear;

[0117] (5) Centrifuge at 10000×g for 5 minutes, remove the supernatant;

[0118] (6) Add 200 μl of 70% ethanol, vortex for 5 seconds, centrifuge at 10,000×g for 5 minutes, remove the supernata...

Embodiment 2

[0123] Example 2 Analysis of the relationship between AIS-related mutation genes and muscle tissue morphology

[0124] According to the above-mentioned Example 1, there are 114 non-synonymous mutation SNPs in AIS patients. Since non-synonymous mutations may change the expressed amino acids, which may affect the function of the protein, 114 non-synonymous mutations in 86 AIS patients' shared genes were further selected for in-depth analysis.

[0125] Through GO classification and channel analysis of 86 genes shared by AIS patients, it was found that the most abundant category of these genes in biological processes is cellular processes, cells, cell parts, and organelles represent the main proportion of cellular components, and combinations account for a large proportion of molecular functions. large part (see Image 6 ). Pathway analysis showed that shared genes were mainly enriched in 10 pathways, including inflammatory signaling pathway, regulation of cytoskeleton by Rho GT...

Embodiment 3

[0126] Example 3 Analysis of the relationship between TTN mutation and the pathogenesis of AIS

[0127] The number of base mutations in the patient's AIS shared gene was analyzed in Example 1, and the results were as follows Figure 9-10 shown. The results showed that most AIS-associated mutant genes had only 1 SNP, but TTN had 14 non-synonymous SNPs (see Figure 9 ). The distribution of these 14 mutants in the TTN protein is as follows Figure 10 shown. Since the TTN gene encodes titin, the largest known protein that is closely related to muscle development, it is an excellent candidate gene for AIS.

[0128] Subsequently, in order to clarify whether there is a correlation between the TTN mutation and the onset of AIS, the sample size of the experiment was further expanded, and TTN sequencing was performed on 140 AIS patients and 121 normal subjects. Firstly, 13 pairs of primers were designed according to the mutation sites of TTN, in which the first pair of primers cont...

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Abstract

The invention provides a kit for predicting and screening juvenile idiopathic scoliosis, including a reagent for detecting TTN gene mutation and / or expression level. By detecting the mutation of the TTN gene, we can predict and screen the population suffering from AIS disease, so as to carry out related prevention in advance, significantly reduce the damage to human health caused by the disease, and also help to evaluate the prognosis of patients who have already suffered from the disease. and rehabilitation; since AIS disease has obvious familial genetic correlation, TTN gene test results can be used to provide eugenic guidance and genetic inquiry for subjects and their families, reducing the birth of related children; except In addition, it can also provide a new drug treatment target for humans to overcome AIS, thus providing a new direction for subsequent drug development and clinical treatment.

Description

technical field [0001] The invention belongs to the field of biomedicine, and relates to a kit for predicting and screening juvenile idiopathic scoliosis and its application. Background technique [0002] Adolescent Idiopathic Scoliosis (AIS) refers to a curved spinal deformity formed during adolescence when one or more segments of the spine deviate from the midline of the body on the coronal plane and bend laterally. It is usually accompanied by scoliosis of the spine and an increase or decrease in protrusion or protrusion on the sagittal plane. The incidence rate is about 1%-3% in adolescents aged 10-18, and girls are more common than boys. One of the most common spinal deformities. [0003] Adolescent idiopathic scoliosis is the most common type of idiopathic scoliosis, accounting for 0.47-5.2% of scoliosis and 90% of idiopathic scoliosis. The etiology of AIS is still unclear, and it may be related to factors such as family genetic inheritance, melatonin level, and plat...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11G01N33/68G01N33/577
CPCC12Q1/6883G01N33/6893G01N33/6887G01N33/577
Inventor 纪志盛马彦明高育京张国威林宏生
Owner JINAN UNIVERSITY
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