Screening kit for congenital aniridia

A kit, an irisless technology, applied in biochemical equipment and methods, microbial determination/inspection, etc., can solve problems such as false negatives, and achieve the effect of reliable, specific and accurate detection

Active Publication Date: 2019-05-10
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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  • Screening kit for congenital aniridia
  • Screening kit for congenital aniridia
  • Screening kit for congenital aniridia

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0023] Example The kit and method of use of the present invention

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

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

[0026] The PCR amplification reagent is used to amplify a piece of 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 ion 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 mutation typing detection reagent (50 people):

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

[0034] Table 3 PAx6 gene mutation typing detection reagents

[0035] Component

volume

...

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Abstract

The invention provides application of a related reagent used for detecting the mutation site c. 275 G>A of the human PAX 6 gene in preparation of a screening reagent for congenital aniridia; the 275 nucleotide in a gene coding area is mutated into A from G to form the mutation site c. 275 G>A. The invention further provides a screening kit for congenital aniridia. The kit is used for detectingthe above-mentioned site mutation. The kit can be used for auxiliary screening for congenital aniridia and has the advantages of being simple and quick.

Description

Technical field [0001] The present invention relates to the field of gene point mutations, in particular to the PAX6 gene point mutations associated with congenital aniridia. Background technique [0002] Congenital aniridia is a rare congenital hereditary ophthalmology disease that is mostly dominantly inherited and rarely affects the whole eye. It can be accompanied by multiple ocular abnormalities and / or different types and degrees of systemic complications. Among them, patients with "classic" aniridia who simply have eye disease usually have characteristic development and functional abnormalities of important eye structures such as cornea, lens, optic disc (optical nerve), and macula, in addition to the typical manifestations of iris hypoplasia. In addition, some patients often have different degrees of ptosis (one eye or both eyes), and a very small number of patients have exudative Coat’s-like retinal detachment, congenital choroidal defects and even huge retinal tears. [0...

Claims

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Application Information

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Patent Type & Authority Applications(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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