Child glaucoma related gene chip, preparation method and application thereof

Abstract

The invention belongs to the field of biomedicines and relates to a gene chip hybridization probe for screening disease-causing gene mutations of child glaucoma, and a design method and application thereof. The invention provides a preparation method of a gene chip and the gene chip hybrid probe related to the disease-causing gene mutations of the child glaucoma, and the gene chip hybrid probe targets genes covering 289 pathogenic genes highly associated with the child glaucoma. The design method of the gene chip hybrid probe is as follows: designing and synthesizing a child glaucoma pathogenic gene hybrid probe, and integrating the child glaucoma pathogenic gene hybrid probe into a gene chip; using the prepared gene chip to capture a genome target region and performing deep sequencing; and performing bioinformatics analysis on screening data to screen candidate pathogenic genes and mutations. A high-efficiency screening technique for screening the disease-causing gene mutations of thechild glaucoma is established, and is helpful for clinically determining the mutant genes of the child glaucoma.

Description

technical field [0001] The invention belongs to the field of biomedicine, and relates to a gene chip for screening children's glaucoma-causing gene mutations, a hybridization probe design method thereof and its application in screening children's glaucoma-causing gene mutations. Background technique [0002] Glaucoma is a kind of irreversible blinding eye disease with progressive optic nerve damage related to pathological increase of intraocular pressure, and then affecting visual function. Generally, glaucoma is an age-related disease, and the incidence rate increases significantly after the age of 40. However, childhood glaucoma, also known as developmental glaucoma and congenital glaucoma, often has ocular abnormalities at birth, and most of them cause irreversible visual function damage in childhood. The condition changes significantly before adulthood, seriously endangering the health of infants and adolescents. Vision development, this defect can lead to lifelong visu...

AI Technical Summary

Problems solved by technology

So far, more than 200 pathogenic genes related to childhood glaucoma have been identified in the world, and with the deepening of research, the number is increasing year by year, but the pathogenic genes or mutations of more than 60% of children with glaucoma have not yet been identified. It is suggested that childhood glaucoma has significant genetic heterogeneity, and its causative genes and mutations need to be further explored

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