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Gene mutation related to microphthalmia and anophthalmos, detection method and use thereof

A technology for anophthalmia and microphthalmia, which can be used in biochemical equipment and methods, microbial determination/inspection, DNA/RNA fragments, etc., and can solve problems that need to be deepened

Active Publication Date: 2019-04-23
BGI GENOMICS CO LTD
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Among the monogenic factors, most of the cases have been reported to be related to mutations in the SOX2 gene. In addition, some mutations in genes related to eye development, such as ALDH1A3, PAX6, and OTX2, have been confirmed to cause microphthalmia and anorexia. The occurrence of eye deformities, but the known causative genes still can only explain <40% of the cases, so the research on the genetic mechanism of microphthalmia and anophthalmos needs to be further studied

Method used

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  • Gene mutation related to microphthalmia and anophthalmos, detection method and use thereof
  • Gene mutation related to microphthalmia and anophthalmos, detection method and use thereof
  • Gene mutation related to microphthalmia and anophthalmos, detection method and use thereof

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Experimental program
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Embodiment 1

[0075] Embodiment 1 sample collection

[0076] According to the requirements of the World Medical Association's "Declaration of Helsinki", the patient's parents signed an informed consent form with the Ethics Committee of the Kennedy Research Center of the University Hospital of Copenhagen, Denmark, a partner institution of BGI.

Embodiment 2

[0077] Example 2 sample preparation

[0078] The peripheral venous blood of patients (IV-3, IV-5) and normal subjects (IV-2) was collected, and genomic DNA was extracted by conventional phenol-chloroform method for high-throughput sequencing. Use a spectrophotometer to measure the concentration and purity of the DNA. The OD260 / OD280 of the genomic DNA of each sample obtained is between 1.7 and 2.0, the concentration is not less than 200ng / μl, and the total amount is not less than 6μg.

Embodiment 3

[0079] Example 3 Library Construction and High-throughput Sequencing

[0080]1. Use an ultrasonic instrument (CovarisS2, Massachusetts, USA) to randomly break each genomic DNA sample into fragments of about 100-200bp, and then follow the instructions provided by the manufacturer to connect adapters to both ends of the fragments to prepare libraries (see : http: / / www.illumina.com / provided Illumina / Solexa standard library construction manual, which is incorporated herein by reference in its entirety). After the library is qualified, it can be sequenced on the machine to obtain the original sequencing data. Among them, the sequencing was performed according to the standard clustering and sequencing steps of Illumina, and the sequencing platform was Illumina Hiseq2000. Illumina basecalling Software1.7 was used to process the raw sequencing data obtained above, and after filtering and decontaminating, use SOAPaligner / SOAP2 (see: Li R, Li Y, Kristiansen K, et al, SOAP: shortoligonu...

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Abstract

The invention relates to the field of genetic eye diseases and particularly relates to the field of microphthalmia. The invention provides microphthalmia and anophthalmia-associated gene mutation as well as a detecting method and an application thereof, wherein the gene mutation refers to a mutated ALDH1A3 gene or a mutated ALDH1A3 protein: C.521G > A, p.Cys174Tyr.

Description

technical field [0001] The present invention relates to the field of hereditary ophthalmic diseases, in particular to the field of microphthalmia. Background technique [0002] Microphthalmia (microphthalmia) and anophthalmia (anophthalmia) are rare ophthalmic malformation diseases, manifested as obvious small eyeball or no eyeball. Anophthalmus is the absence of ocular tissue in the orbit, complete absence of the eyeball, eyelids, conjunctiva, eyelashes, and lacrimal apparatus. Microphthalmia refers to eyeball deformities in the orbit, including deformities in shape, volume, and structure. The diameter of the cornea is generally less than 10 mm, and the diameter of the anterior and posterior axis of the eyeball is less than 20 mm. Some ocular adnexa and eyelids may appear normal. Microphthalmia and anophthalmos are usually bilateral, and isolated microphthalmia is also often unilateral. They can be a single disease or a part of a syndrome, surveys show that about 50% of p...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/32C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 方明艳泽伊内普·蒂梅尔吴斌张建国
Owner BGI GENOMICS CO LTD
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