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Application of ZNF124 gene in early screening or auxiliary diagnosis of retinal pigment degeneration disease

A technology for retinal pigmentation and degenerative diseases, applied in the field of gene detection, can solve the problem that the disease-causing gene has not been found yet

Active Publication Date: 2020-06-19
SICHUAN PROVINCIAL PEOPLES HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

At present, 70 gene mutations have been reported to be associated with RP, but they can only explain about 50% of the cases, and some causative genes have not yet been found

Method used

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  • Application of ZNF124 gene in early screening or auxiliary diagnosis of retinal pigment degeneration disease
  • Application of ZNF124 gene in early screening or auxiliary diagnosis of retinal pigment degeneration disease
  • Application of ZNF124 gene in early screening or auxiliary diagnosis of retinal pigment degeneration disease

Examples

Experimental program
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Effect test

experiment example 1

[0050] Family analysis and discovery of ZNF124 mutation

[0051] Among the collected RP families, the RP074 family is a Han nationality with autosomal recessive retinitis pigmentosa in Southwest China, with 13 members in 3 generations, and 2 of them suffered from RP. Clinical examination showed that the probands IV:4 and IV:5 of the RP074 family had poor night vision from the age of 15, and gradually developed night blindness and impaired peripheral vision. Fundus examination showed optic nerve head atrophy in both eyes, retinal artery stenosis, and retinal pigmentation ( figure 1 Middle A), retinal optical coherence tomography (Optical Coherence tomography, OCT) showed that the neuroepithelium of the patient's retina became thinner, and the outer nuclear layer was the most obvious; the reflection of the inner and outer segmental junction layers of photoreceptors disappeared, and some of them were discontinuous; the pigment epithelial cells partially lost and changed Thin, at...

experiment example 2

[0054] Further data analysis of the collected whole-exome sequencing RP samples in which no known gene mutations were detected revealed that another autosomal recessive RR family, RP131, carried the ZNF124 mutation. RP131 is a Han RP family in northern China ( Figure 4 Middle A). The proband carried a homozygous mutation of ZNF124 ( Figure 4 Middle B), whose parents are heterozygous carriers. The proband was a male patient who developed night blindness and progressive visual atrophy around the age of 20.

[0055] This mutation site has not been detected in dbSNP database, 1000Genomes, NHLBI Exome Sequencing Project (ESP), the ExAC Browser (Beta), gnomAD database, which is a rare mutation. The mutation was not detected in 3,000 healthy control samples. This splicing mutation results in a clipping deletion of the coding region after codon 73, resulting in a frameshift mutation; the mutated ZNF124 protein retains only the N-terminal KRAB-A box domain, these data suggest tha...

experiment example 3

[0057] In order to detect the effect of the deletion mutation (NM_003431:exon5:c.219-1G>-) on the transcription and translation of ZNF124 protein, the peripheral blood RNA of the RP074 proband and his parents was extracted and reverse transcribed into cDNA, the method is as follows:

[0058] (a) Separate the peripheral blood leukocytes, place them in a 1.5ml centrifuge tube, add 1ml Trizol extract, and keep at room temperature for 20 minutes;

[0059] (b) Add 200 μl of chloroform, mix thoroughly, and let stand at room temperature for 10 minutes;

[0060] (c) The sample is placed in a centrifuge at 4 degrees, and centrifuged at 10,000 rpm for 15 minutes;

[0061] (d) Carefully absorb the supernatant, add an equal volume of isopropanol, mix thoroughly, and centrifuge at 10,000 rpm to precipitate RNA;

[0062] (e) Wash the precipitated total RNA with 75% ethanol, centrifuge to precipitate again, then dry and add DEPC water to dissolve;

[0063] (f) cDNA was synthesized from the...

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Abstract

The invention discloses application of a ZNF124 gene in early screening or auxiliary diagnosis of retinal pigment degeneration disease, and relates to the technical field of gene detection. The invention discloses application of a detection reagent for detecting ZNF124 gene mutation in preparation of a reagent or a kit for early screening or auxiliary diagnosis of the retinal pigment degenerationdisease. Research finds that the mutation of the ZNF124 gene is related to the retinal pigment degeneration disease, early screening or auxiliary diagnosis can be performed on the retinal pigment degeneration disease by detecting the mutation of the ZNF124 gene, and a new scheme is provided for early screening or diagnosis of the retinal pigment degeneration disease.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to the application of ZNF124 gene in early screening or auxiliary diagnosis of retinitis pigmentosa disease. Background technique [0002] Retinitis pigmentosa (RP) is an inherited retinal disease caused by abnormalities in photoreceptor cells (including rods and cones). The incidence of RP in the world is about 1 / 5000-1 / 3500; in my country, the incidence of RP is also increasing year by year, about 1 / l000, which is one of the important causes of blindness. Typical RP patients first develop night blindness and narrow visual field due to the defect of rod cell function, and gradually develop tubular visual field until blindness; retinal pigmentation can be seen in fundus examination. The pathogenesis of RP is extremely complex, involving many different biological metabolic pathways. The protein encoded by the pathogenic gene is mainly involved in the process of light conduct...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 朱献军杨正林杨业明田万里刘文静
Owner SICHUAN PROVINCIAL PEOPLES HOSPITAL
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