EPHA2 gene mutant and application thereof

A mutant and gene technology, applied in the field of encoded polypeptides and mutant E, can solve the problems of unknown etiology of patients and the need for further research on congenital cataracts

Active Publication Date: 2016-11-30
SHENZHEN HUADA GENE INST +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Although many mutations in more than 40 genes have been found to cause congenital cataracts, there are still many patients whose etiology is unknown, and the research on congenital cataracts still needs to be in-depth

Method used

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  • EPHA2 gene mutant and application thereof
  • EPHA2 gene mutant and application thereof
  • EPHA2 gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0047] 1. Sample collection

[0048] The inventor collected a congenital cataract family in Anhui, China. The patients in the family showed the phenotype of congenital cataract, showing an autosomal dominant inheritance pattern. The family diagram is as follows Figure 5 As shown, the solid ones in the figure represent patients, the hollow ones represent normal people, and II1, III11, IV2, and IV8 are samples with exons measured. We collected the peripheral blood of some members of the family and extracted DNA, and selected 4 members (3 patients, 1 normal person) for exome sequencing, and all participants who provided blood samples signed an informed consent. and was approved by the Ethics Committee.

[0049] 2. Chip design, library construction and high-throughput sequencing

[0050] The inventor used NimbleGen SeqCap EZ Human Exome Library v2.0 (NimbleGen, Madison, WI, USA) combined with Solexa high-throughput sequencing technology to sequence the exome sequences of the fo...

Embodiment 2

[0062] 1. Sample Preparation

[0063] The peripheral blood of the members of the family was collected, and the genomic DNA in the peripheral blood leukocytes was extracted by the conventional phenol-chloroform method, and the concentration and purity of the DNA were measured by a spectrophotometer. Between, the concentration is not less than 200ng / μl, and the total amount is not less than 30μg.

[0064] 2. Detection of disease mutation sites

[0065] Sanger sequencing was performed on 3 patient samples and 1 normal sample with exons tested in the family, as well as other family members who were willing to donate samples, including primer design, PCR amplification, product purification, sequencing to obtain sequences, and according to the sequence determination results Belong to mutant or wild type, verify the correlation between mutation and congenital cataract. The specific method steps are as follows:

[0066] 1) DNA extraction:

[0067] Genomic DNA was extracted from th...

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Abstract

The invention discloses a mutant EPHA2 gene, which has a sequence shown as SEQ ID NO:1. The invention also discloses a polypeptide coded by mutant EPHA2 gene, use of the mutant EPHA2 gene and / or its coded protein in early screening, diagnosis of congenital cataract and / or preparation of drugs for treatment of congenital cataract, a method for screening of congenital cataract biological samples, a system for screening of congenital cataract biological samples and a kit for screening of congenital cataract biological samples.

Description

[0001] related application [0002] This application claims the priority and rights of the Chinese patent application 201510254801.5 with the filing date of May 19, 2015, entitled "EPHA2 gene mutant and its application", the entire content of which is hereby incorporated by reference. technical field [0003] The present invention relates to the field of biology, specifically, the present invention relates to the field of mutation detection, more specifically, the present invention relates to a mutant EPHA2 gene, a polypeptide encoded by the mutant EPHA2 gene, a mutant EPHA2 gene and / or a polypeptide encoded by it Use, method for screening biological samples of congenital cataract, system for screening biological samples of congenital cataract, and kit for screening biological samples of congenital cataract. Background technique [0004] Cataract is due to various reasons such as aging, genetics, local nutritional disorders, immune and metabolic abnormalities, trauma, poison...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/68C12M1/34G01N33/68
Inventor 布娟何思捷张建国方明艳王乐今刘敬
Owner SHENZHEN HUADA GENE INST
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