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DNA library for detecting and diagnosing corneal dystrophy disease-causing genes as well as application of DNA library

A DNA library and malnutrition technology, applied in the field of DNA library, can solve the problems of heavy workload, waste of DNA samples, restricting large-scale application, etc., and achieve the effect of assisting clinical diagnosis

Pending Publication Date: 2020-01-21
福州福瑞医学检验实验室有限公司
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  • Abstract
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AI Technical Summary

Benefits of technology

This patented describes methods for identifying specific diseases associated with cornea dysfunction caused by various factors like aging (age) and environmental exposure during eye development. These techniques involve analyzing gene expression levels within certain parts of the body called chromatics, specifically focussing upon different types of cells found inside them. By comparing these results against existing data sources collected over time, it becomes possible to identify new ones without having any previous knowledge about how they were developed. Overall, this approach provides valuable tools for understanding complex disorders involving multiple organs and developing effective treatments for vision loss due to degenerative conditions.

Problems solved by technology

This patented technical problem addressed in the current treatments involves identifying and categorizing coronal degeneraectropica (CD) diseases that may affect their visual function due to changes in color perception such as staining from lens crystals during eye growth phase. Current techniques require subjectivity and interpretation, making them difficult to interpret even if they were able to identify certain types of CD disorders correctly.

Method used

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  • DNA library for detecting and diagnosing corneal dystrophy disease-causing genes as well as application of DNA library
  • DNA library for detecting and diagnosing corneal dystrophy disease-causing genes as well as application of DNA library
  • DNA library for detecting and diagnosing corneal dystrophy disease-causing genes as well as application of DNA library

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Embodiment 1

[0041] In this embodiment, the Hiseq sequencing platform of Illumina Company is used to detect the genomic DNA of the peripheral blood of the subject, and the specific implementation steps are as follows:

[0042] 1. Sample source

[0043] The proband was a 52-year-old male from Fujian Province, China. About 20 years ago, he began to experience corneal epithelial erosion symptoms such as redness, eye pain, photophobia, and tearing, and his vision gradually decreased. Slit lamp examination: Oval opacities with irregular edges can be seen in the subepithelial and superficial layers of the central cornea of ​​both eyes. The 25-year-old daughter of the proband had no obvious clinical symptoms, but the results of slit lamp examination showed scattered punctate opacities under the epithelium of the central cornea of ​​both eyes. The eye examinations of the 23-year-old son of the proband and the wife of the proband showed no abnormalities. The patient's family tree is Figure 4 As ...

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Abstract

The invention relates to a DNA library for detecting and diagnosing corneal dystrophy disease-causing genes as well as application of the DNA library. The library comprises 24 disease-causing genes related to corneal dystrophy; 24 corneal dystrophy disease-causing genes are preferably selected, a probe pool is designed, a target area library aiming at the 24 corneal dystrophy disease-causing genesis established, and the library performs sequencing by a high-throughput sequencing technology, looks for disease-cause mutation and provides genetic and molecular biological basis for clinical diagnosis. The library has the characteristics of accuracy, rapidness, flexibility and low cost; 24 gene detection areas can detect various kinds of common corneal dystrophy such as epithelial and subepithelial corneal dystrophy, Bowman's membrane corneal dystrophy, stromal corneal dystrophy, descemet's membrane and corneal endothelium dystrophy; and important significance and clinical value in diagnosis and differential diagnosis on the corneal dystrophy are achieved.

Description

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Claims

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Application Information

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Owner 福州福瑞医学检验实验室有限公司
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