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A congenital aniridia screening kit

A congenital, aniridic technology, applied in the direction of biochemical equipment and methods, microbial measurement/inspection, etc., can solve the problems of false negatives, achieve reliable specificity, and a wide range of applications

Active Publication Date: 2022-07-22
SICHUAN PROVINCIAL PEOPLES HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, not all mutations in any of the aforementioned genes are associated with congenital aniridia; diagnosis of congenital aniridia by detecting the few existing mutations will inevitably lead to false negative test results

Method used

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  • A congenital aniridia screening kit
  • A congenital aniridia screening kit
  • A congenital aniridia screening kit

Examples

Experimental program
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Embodiment

[0023] Example Kit of the present invention and method of use

[0024] All components, contents and use methods in the kit of the present invention are as follows:

[0025] 1. PCR amplification reagents (50 copies):

[0026] The PCR amplification reagent is used to amplify a DNA sequence where the SNP site is located, and its composition is shown in Table 1.

[0027] Table 1 PCR amplification reagents

[0028] component concentration volume PCR mix 2× 600μl primer pair 10μM 100μl pure water 2ml

[0029] The PCR mixture in Table 1 includes Taq enzyme, dNTP, magnesium ions and other components required for conventional PCR; the primer pair information is shown in Table 2.

[0030] Table 2 Primers used for PAx6 gene amplification

[0031]

[0032] 2. PAX6 gene variant typing detection reagent (50 copies):

[0033] The reagent included the components shown in Table 3.

[0034] Table 3 Detection reagents for PAx6 gene variant typi...

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Abstract

The invention provides the use of a relevant reagent for detecting the mutation site c.275G>A of human PAX6 gene in the preparation of a screening reagent for congenital aniridia; the mutation site c.275G>A is the number one of the coding region of the gene Nucleotide 275 was mutated from G to A. The present invention also provides a congenital aniridia screening kit, which is a kit for detecting the aforementioned site mutation. The invention can be used for auxiliary screening of congenital aniridia, and has the characteristics of simplicity and speed.

Description

technical field [0001] The present invention relates to the field of gene point mutation, in particular to the PAX6 gene point mutation associated with congenital aniridia. Background technique [0002] Congenital aniridia is a rare congenital hereditary ophthalmic disease involving the entire eye, which is mostly dominantly inherited. Among them, "classic" aniridia patients with simple ocular lesions usually have characteristic developmental and functional abnormalities of important ocular structures such as cornea, lens, optic disc (optic nerve), and macula, in addition to the typical manifestations of iris hypoplasia. In addition, some patients often suffer from different degrees of ptosis (one or both eyes), and very few patients have exudative Coat's disease-like retinal detachment, congenital choroidal defects and even giant retinal tears. [0003] Therefore, it is very important to prevent newborns from suffering from this genetic disease through correct diagnosis. ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883
Inventor 龚波刘小琦郭小新杨辰
Owner SICHUAN PROVINCIAL PEOPLES HOSPITAL
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