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Application of substance for detecting HSF4 gene mutation in diagnosis of cataract in giant pandas

A giant panda cataract technology, applied in the field of veterinary medicine, can solve the problems of lens protein loss of function and cataract, occurrence and other problems

Active Publication Date: 2020-07-17
北京动物园
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Furthermore, HSF4 mutations promote lens denucleation and lead to loss of function of crystallins and cataract development

Method used

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  • Application of substance for detecting HSF4 gene mutation in diagnosis of cataract in giant pandas
  • Application of substance for detecting HSF4 gene mutation in diagnosis of cataract in giant pandas
  • Application of substance for detecting HSF4 gene mutation in diagnosis of cataract in giant pandas

Examples

Experimental program
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Embodiment 1

[0083] Example 1. Discovery of gene mutations associated with giant panda cataracts and phacolytic glaucoma

[0084] 1. Materials

[0085] Cataract giant panda: Xinxing, born in 1982, is from Chongqing Zoo, female, whose parents are from the wild. Since 2010, cataract has developed, both sides of the cornea have basically shrunk, poor vision, slow movement and dull expression. In addition, 5 giant pandas from Chongqing Zoo, Chengdu Zoo and Beijing Zoo were selected as controls.

[0086] The information of each panda is as follows:

[0087] panda name year of birth source disease state gender Ya dick Year 1999 Chongqing Zoo A healthy panda without cataracts female freezing point 2000 Chengdu Zoo Health without cataracts male Yaya 1990 Chengdu Zoo Health without cataracts female Lele 1986 Beijing Zoo cataract patients female Ginny 1993 Beijing Zoo cataract patients female nova 1982 Chong...

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Abstract

The invention discloses application of a substance for detecting HSF4 gene mutation in diagnosis of cataract in giant pandas. The present invention discovers a gene mutation related to the giant pandacataract, namely, a mutation of the 1132th nucleotide of an HSF4 gene from C to T, resulting in a mutation of the 378th amino acid residue of the HSF4 protein encoded by the HSF4 gene from Arg to Trp. The mutation exists in giant panda Nova with cataract, but does not exist in the remaining pandas, which indicates that the mutation can be used to diagnose cataracts in giant pandas or evaluate thecataract risk.

Description

technical field [0001] The invention relates to the application of a substance for detecting HSF4 gene mutation in the diagnosis of giant panda cataract in the field of animal medicine. Background technique [0002] Most cataracts are related to aging, environmental factors or genetic factors. About one-third of cataracts have a distinct genetic component, some due to disruption of normal lens development and some due to mutations in crystallin itself or other proteins required for normal lens physiology, including blockade of oxidative stress response pathways. Cumulative reactions to oxidative damage can also progressively destroy the lens, either leading to the accumulation of pigment or the aggregation of crystal proteins, which are the main components of lens clarity and refraction. However, there are genetic mutations that affect crystallins, as well as mutations that affect structural proteins of the connexin and precursor myelin family, connexins, or stress response...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883G01N33/68
CPCC12Q1/6883G01N33/6893C12Q2600/156G01N2800/166G01N2800/50
Inventor 由玉岩柏超刘学锋王伟贾婷张成林李晓光尹彦强夏茂华卢岩普天春陈玉村王利勤修云芳杜洋马涛刘彦晖
Owner 北京动物园
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