Human TGFBI gene mutation detection kit and detection method thereof

Abstract

The invention provides a human TGFBI gene mutation detection kit and a detection method thereof. The invention provides effective and targeted protection at an early stage for carriers of a corneal abnormality mutation gene, and can delay the development of a disease course and even avoid the onset of a disease. The invention provides a primer and a probe for detecting corneal dystrophy caused bymutation of a human TGFBI gene at a 124-site and a 555-site, and the primer and the probe are capable of detecting the mutation of the TGFBI gene at the 124-site and the 555-site, high in sensitivityand strong in specificity. The invention provides the corneal abnormality mutation gene detection kit which is capable of rapidly, efficiently and accurately detecting the mutation of the human TGFBIgene at the 124-site and the 555-site. The invention further provides the detection method for detecting the mutation of the human TGFBI gene at the 124-site and the 555-site by the kit, and the detection method has the advantages of simple operation, high sensitivity, high specificity, wide application models, true and reliable detection results, easy promotion and the like.

Description

technical field [0001] The invention belongs to the field of gene detection, and in particular relates to a human TGFBI gene mutation detection kit and a detection method thereof. Background technique [0002] Corneal dystrophies (Corneal Dystrophies, CD), also known as corneal dystrophy, is a general term for symmetrical, non-inflammatory corneal diseases. The incidence rate is about 1 / 2000, and the male to female ratio is 1.7:1.0. Most of the patients are sporadic, and about 6%-10% of the patients have a clear positive family history, and the mode of inheritance includes recessive and dominant forms. Its onset is due to the progressive damage to the structure or function of the cells in the normal corneal tissue under the action of genetic abnormalities, resulting in the formation of deposits of various shapes in the corneal tissue, which gradually reduces vision, and causes erosion and photophobia. and other complications; the cornea of ​​advanced patients will be cover...

AI Technical Summary

Problems solved by technology

Mutations can lead to abnormal cell adhesion and crawling functions, which in turn affect cell proliferation and differentiation. Under the accumulation of denatured products, it will lead to repeated epithelial erosion

TGFBI is expressed in a variety of tissues, but the deposition of TGFBI in other tissues (such as liver, lung, kidney, etc.) was not found in the study

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