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POAG gene detection kit suitable for prenatal noninvasive diagnosis and detection method thereof

A gene detection and kit technology, applied in the field of biomedicine, can solve problems such as detection danger, and achieve the effect of high accuracy, high sensitivity and accurate prediction

Active Publication Date: 2021-05-07
中国人民解放军陆军特色医学中心
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] However, for the prenatal detection of the existing technology, there is a certain detection risk.
The prenatal detection in the prior art mainly detects whether the fetus carries a disease-causing gene through methods such as fetal chorionic villi or amniocentesis. This kind of prenatal detection has certain risks for both the fetus and the pregnant woman. also limits the way of invasive prenatal testing

Method used

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  • POAG gene detection kit suitable for prenatal noninvasive diagnosis and detection method thereof
  • POAG gene detection kit suitable for prenatal noninvasive diagnosis and detection method thereof
  • POAG gene detection kit suitable for prenatal noninvasive diagnosis and detection method thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0052] Example 1: Screening of susceptibility genes

[0053] 1. Samples: At the pedigree level, 2 large young POAG pedigrees were collected (see figure 1 M and figure 2 L's) and more than 10 small POAG families, successfully established 10 immortal cell lines of 28 elderly patients and genomic DNA libraries of 328 samples. Using the strategy based on candidate site cloning combined with linkage analysis, the candidate genes of two young POAG families were locked at 2p15-p16.3 by fine mapping method, and the LODs can be as high as 6.238 11–13 , this region is superior to the linkage region of seven European POAG family pathogenic genes reported by Suriyapperuma SP et al. Because of the smaller range (7.4Mb vs 8.3Mb), it has laid a good foundation for cloning and identification of new POAG pathogenic genes . All selected samples were signed informed and voluntary agreements by myself, and were approved by the Ethics Committee of the Third Affiliated Hospital of Third Militar...

Embodiment 2

[0083] Example 2: Predicting the risk of POAG based on machine learning

[0084] Model construction: We select four machine learning algorithms for risk prediction model construction: Elastic Network Algorithm, Random Forest Algorithm, Support Vector Machine Algorithm and Neural Network Algorithm. The R package caret of machine learning in R language is used to determine the optimal parameters of each algorithm model. Using 10×10 cross-validation, we selected the optimal parameters of each model as follows: Elnet (alpha=.1, gamma=0.027), RF (mtry=2), SVM (cost=2, gamma=0.8), ANN (size=3, decay=0.1).

[0085] Model comparison: Using the constructed machine learning model, we applied it to the verification sample in Example 1, and calculated the receiver characteristic curve (ROC) and AUC value to judge the pros and cons of each model.

[0086] Optimal model: Calculate the optimal threshold based on the ROC curve based on the prediction accuracy of each machine learning model....

Embodiment 3

[0088] Example 3: A kit for non-invasive prenatal risk assessment of POAG.

[0089] (1) Sample preparation:

[0090] The blood of pregnant women is collected, and the fetal cell-free DNA in the blood is extracted.

[0091] 1) Prepare washing solution (purchase manufacturer: Changzhou EMI Biotechnology Co., Ltd.), prepare washing solution A and washing solution B;

[0092] Washing solution A: Add 9ml of absolute ethanol to take 21ml of washing solution; add 18ml of absolute ethanol to take 42ml of washing solution.

[0093] Washing solution B: Add 21ml of absolute ethanol to take 9ml of washing solution; add 42ml of absolute ethanol to take 18ml of washing solution.

[0094] 2) Take a 1.5ml centrifuge tube, add 200ul of blood samples collected from pregnant women, 4ul DNA Carrier (DNA carrier, purchaser: Changzhou EMI Biotechnology Co., Ltd.), mix well, add 300ul lysate (purchaser: Changzhou EMI Biotechnology Co., Ltd. company), and 20ul of digestive solution (purchased from...

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Abstract

The invention discloses a POAG gene detection kit suitable for prenatal noninvasive diagnosis and a detection method thereof. The kit comprises a specific primer group and a specific fluorescent probe group which are designed for the following 11 SNP sites: rs290487, rs10830963, rs17802111, rs7420812, rs3754648, rs10904012, rs12635144, rs2964283, rs3747926, rs59306779 and rs6135530. The POAG gene detection kit has the characteristics of simple operation, low cost, good specificity, high sensitivity and the like, and can simultaneously detect and determine various types of mutations of a plurality of pathogenic / susceptible genes at most, so that the probe groups and the kit can be applied to molecular genetic diagnosis of sick individuals, and can also be used for screening high-risk groups in family members of POAG patients and providing reference for corresponding genetic counseling or prenatal intervention. The POAG gene detection kit is helpful for early treatment or intervention, has extremely important value for prenatal and postnatal care, and conforms to the development trend of precision medical treatment.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular to a POAG gene detection kit suitable for prenatal non-invasive detection and a detection method thereof. Background technique [0002] Glaucoma is a group of diseases characterized by optic atrophy and visual field defect, and pathological elevated intraocular pressure is its main risk factor. It is the second most common blinding eye disease in the world today, ranking first among irreversible blindness. According to statistics, in 2013, 643 million people worldwide suffered from glaucoma, and by 2020, approximately 760 million people will suffer from glaucoma, and the number of glaucoma patients will rise to 1.118 billion in 2040. Glaucoma seriously threatens the quality of life of human beings with its high morbidity and blindness. [0003] Clinically, according to the anatomical changes of the anterior chamber angle, glaucoma can be divided into primary angle-closure glau...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156Y02A50/30
Inventor 刘莛范丽琪宣杰
Owner 中国人民解放军陆军特色医学中心
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