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crx gene mutant and its application

A technology of mutants and constructs, applied in the fields of application, genetic engineering, plant gene improvement, etc., can solve the problems of cone and rod cells that need to be deepened, and the etiology of patients is unknown, so as to achieve the effect of high early diagnosis rate

Active Publication Date: 2017-09-22
SHENZHEN HUADA GENE INST +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

To date, mutations in at least 26 genes have been reported to be associated with different forms of CORD, but many patients remain of unknown etiology
Therefore, the current research on cone-rod dystrophy, especially its pathogenic genes, still needs to be further studied.

Method used

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  • crx gene mutant and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0068] Example 1 Determining the Causative Mutation of Cone and Rod Dystrophy

[0069] 1. Sample collection

[0070] The inventor has an adCORD diseased family living in southern China, the pedigree is shown in figure 2 . Such as figure 2 As shown, ○ indicates normal female, □ indicates normal male, ■ indicates male patient, ● indicates female patient, Indicates a deceased male patient; Indicates a deceased normal male; Indicates a deceased normal female; the arrow points to the proband (III-12).

[0071] There are 9 patients in this family, with 3 consecutive generations of the disease, both men and women are affected, which conforms to the Mendelian autosomal dominant inheritance pattern. The proband (III-12) of this family was male, aged 50. The proband was diagnosed with progressive vision loss and slight color vision defect at the age of 40. Fundus photography showed a 2×2PD gold leaf image in the patient's macula with diffuse hypopigmentation; the peripheral ...

Embodiment 2

[0089] Example 2 Sanger method sequencing verification

[0090] Detect the CRX gene of all family members (including patients and normal family members) in the adCORD patient family described in Example 1, and 100 normal people outside the family line: design primers for the c.766C>T mutation of the CRX gene , and then obtain the relevant sequence of the mutation site by PCR amplification, product purification and sequencing, and verify the relationship between the CRX gene and the mutation and cone-rod cell dystrophy according to whether the sequence determination result belongs to the mutant type or the wild type Correlation.

[0091] The specific method steps are as follows:

[0092] 1. DNA extraction

[0093] According to the method for extracting DNA described in Example 1, the genomic DNA in the peripheral venous blood of the subject was extracted and prepared respectively for future use.

[0094] 2. Primer design and PCR reaction

[0095] First, with reference to th...

Embodiment 3

[0108] Example 3 Detection Kit

[0109] Preparation of a detection kit comprising primers capable of detecting the c.766C>T mutation of the CRX gene for screening biological samples susceptible to cone-rod dystrophy, wherein the primers are specific to the exons of the CRX gene Primers, the sequences of which are shown in SEQ ID NO: 3-4 in Example 2.

[0110] The specific steps for using the above kit to screen biological samples susceptible to cone-rod dystrophy are: extract the DNA of the test subject according to the method described in 2.1 "DNA Extraction" of Step 2 of Example 1, and use the extracted DNA is used as a template to perform a PCR reaction with the exon-specific primers of the above-mentioned CRX gene (see Example 2 for the PCR reaction system and reaction conditions), and the PCR product is purified according to a conventional method in the art, and the purified product is sequenced, and then passed Observing whether the sequence obtained by sequencing has t...

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Abstract

The invention discloses CRX gene mutants and applications thereof, in particular to isolated nucleic acids encoding CRX mutants, isolated polypeptides, methods for screening biological samples susceptible to cone-rod dystrophy, and screening for cone-rod dystrophy A system for biological samples of rod dystrophy, and a kit for screening biological samples susceptible to cone rod dystrophy. Wherein, compared with SEQ ID NO: 1, the isolated nucleic acid encoding a CRX mutant has a c.766C>T mutation. By detecting whether the new mutant exists in the biological sample, it is possible to effectively detect whether the biological sample is susceptible to cone-rod dystrophy.

Description

technical field [0001] The present invention relates to CRX gene mutant and application thereof. In particular, the present invention relates to isolation of nucleic acids encoding CRX mutants, isolated polypeptides, systems for screening biological samples susceptible to cone-rod dystrophy, systems for screening biological samples susceptible to cone-rod dystrophy Kits for samples, constructs, recombinant cells, and methods for constructing drug screening models. Background technique [0002] Cone-rod dystrophies (CORDs) are a group of hereditary progressive retinal diseases with an incidence rate of 1 / 40000. The main feature of CORDs is the dysfunction of cone cells in the early stage of disease, followed by the degeneration of rod cells. Clinical manifestations of such disorders include photophobia, decreased vision, color vision deficits, and central scotoma. Some patients experience nystagmus. Absent or severely damaged cone function on electroretinogram is a typica...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C12M1/00C12M1/34C12Q1/68C07K14/47A01K67/027
Inventor 陆勤康张建国张咸宁赵娜龚维坤方明艳王惠云童奇湖张元均
Owner SHENZHEN HUADA GENE INST
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