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FOXC1 gene mutant and its application

A mutant, c.168delc technology, applied in the fields of application, genetic engineering, plant gene improvement, etc., can solve problems that need to be further studied

Active Publication Date: 2014-02-12
汕头大学·香港中文大学联合汕头国际眼科中心 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0004] Therefore, the current research on Axenfeld-Rieger syndrome still needs to be further studied

Method used

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  • FOXC1 gene mutant and its application
  • FOXC1 gene mutant and its application
  • FOXC1 gene mutant and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0071] 6 patients (i.e. patients 1-6 in Table 1), 5 normal persons in the family (i.e. the relatives of the 6 patients, none of them had the disease) and 200 normal persons outside the family line (i.e. the same as those in Table 1) All patients with unrelated controls) were subjected to exome sequencing, that is, primers were designed for all exon sequences of the foxc1 gene, and foxc1-related sequences were obtained by PCR amplification, product purification, and sequencing. According to the sequence determination results, it was a mutation Type or wild type, verify the correlation between foxc1 and Axenfeld-Rieger syndrome. The specific method steps are as follows:

[0072] 1.1 Genomic DNA preparation: Collect the peripheral venous blood of the aforementioned 6 patients in the family, 5 normal people in the family and 200 normal people outside the family, and use the QIAmp Blood kit (Qiagen, Hilden, Germany) to extract the genomic DNA in the peripheral blood leukocytes , U...

Embodiment 2

[0089] Preparation of a detection kit comprising primers capable of detecting FOXC1 gene mutants with a c.168delC mutation for screening biological samples susceptible to Axenfeld-Rieger syndrome, wherein these primers are exon-specific primers of the FOXC1 gene , whose sequence is shown in SEQ ID NO: 3-4 described in Example 1.

[0090] The specific steps for screening biological samples susceptible to Axenfeld-Rieger syndrome using the above kit are as follows: extract the DNA of the test subject according to the method described in 1.1 of Example 1, and use the extracted DNA as a template and the expression of the above-mentioned FOXC1 gene sub-specific primers for PCR reaction, and according to conventional methods in the art to purify the PCR product, sequence the purified product, and then observe whether the sequence obtained by the sequencing has a c.168delC mutation, the FOXC1 gene of the present invention can be effectively detected Whether the mutant exists in the t...

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Abstract

The invention relates to a separated nucleic acid coding an FOXC1 mutant, a separated polypeptide, a method for screening biological samples susceptible to an Axenfeld-Rieger syndrome, a system for screening the biological samples susceptible to the Axenfeld-Rieger syndrome, a kit for screening the biological samples susceptible to the Axenfeld-Rieger syndrome, and a method for screening medicines for treating or preventing the Axenfeld-Rieger syndrome. Compared with SEQ ID NO:1, the separated nucleic acid coding the FOXC1 mutant has a c.168delC mutation. Whether the biological samples are susceptible to the Axenfeld-Rieger syndrome nor not can be effectively detected by detecting the existence of the new mutant in the biological samples or not.

Description

technical field [0001] The present invention relates to FOXC1 gene mutant and its application. Specifically, the present invention relates to isolated nucleic acids encoding FOXC1 mutants, isolated polypeptides, methods for screening biological samples susceptible to Axenfeld-Rieger syndrome, systems for screening biological samples susceptible to Axenfeld-Rieger syndrome, for screening Kits for biological samples susceptible to Axenfeld-Rieger syndrome and methods for screening drugs for the treatment or prevention of Axenfeld-Rieger syndrome. Background technique [0002] Axenfeld-Rieger syndrome is a developmental disease characterized by developmental defects of both eyes, with or without systemic developmental abnormalities. Bone and facial bone abnormalities are autosomal dominant inheritance, mostly with family history, and the same for men and women. The clinical characteristics of the eyes are: binocular disease, vision loss, posterior corneal embryonic ring, abno...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12Q1/68C12Q1/02C12M1/34C07K14/47
Inventor 陈建欢张铭志管李萍林伟涛王丽娟吴斌陈浩宇黄楚开郑玉倩彭智培王俊汪建杨焕明
Owner 汕头大学·香港中文大学联合汕头国际眼科中心
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