CC (congenital cataract) PITX3 gene novel mutation

A congenital cataract and genetic technology, applied in genetic engineering, plant genetic improvement, animal/human peptides, etc., can solve the problems of high cost and achieve the effect of perfecting and enriching the diagnostic process

Active Publication Date: 2015-04-29
BGI GENOMICS CO LTD +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

For example: posterior cataract, crystalline pupil clamping, secondary glaucoma, etc., and postoperative irreversible amblyopia, high hyperopia in aphakic eyes and non-adjustable refractive state in artificial phakic eyes have great influence on patients. impact, and surgical treatment is expensive

Method used

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  • CC (congenital cataract) PITX3 gene novel mutation
  • CC (congenital cataract) PITX3 gene novel mutation
  • CC (congenital cataract) PITX3 gene novel mutation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0044] In this example, a new generation of whole exome sequencing technology was used to perform high-throughput sequencing of all exome regions in a Chinese Han family with autosomal dominant inheritance of congenital cataract. Combined with bioinformatics analysis, it was found that PITX3 The c.608delC (p.A203fs) mutation in the gene is related to congenital cataract (CC), and this variation was verified by co-segregation experiments and other methods.

[0045] 1. Sample collection

[0046] The congenital cataract family contains 30 members, including 9 congenital cataract patients ( figure 1 ). In the family, 3 patients with congenital cataract and 1 normal control were selected as exome sequencing samples (Table 1). 2 ml of peripheral blood samples were collected from each sample, anticoagulated with EDTA, and stored at -80 degrees Celsius. Later, 4 patients and 4 normal control individuals in the family were collected as secondary verification samples (Table 2). 2ml of...

Embodiment 2

[0096] As a further verification of Example 1, the following examples are provided.

[0097] 1 Sample preparation

[0098] The peripheral blood of 12 samples (7 patients and 5 controls) in the cataract 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. The OD260 / OD280 of the genomic DNA of the specimen is between 1.7-2.0, the concentration is not less than 200ng / ul, and the total amount is not less than 30μg.

[0099] 2 Gene detection of disease-causing mutations

[0100] The PITX3 gene deletion site of 12 samples (7 patients and 5 controls in Table 1 and Table 2) was detected, primers were designed for the sequence near the deletion site detected by this known gene, and the product was amplified by PCR. Purification and sanger sequencing methods are used to obtain relevant sequences near the deletion site, an...

Embodiment 3

[0125] Kit 1: a kit for detecting the mutation PITX3 gene, comprising one or more sets of primer pairs, wherein the mutation is the mutation c.608delC of the PITX3 gene or the mutation p.A203fs of the PITX3 protein, wherein the primer pairs are selected based on Design on the genome sequence or the cDNA coding region sequence from the following position, so that the amplified product covers this position: the 608th position of the cDNA coding region sequence of the PITX3 gene, and the kit for detecting the mutant PITX3 gene includes the following primers:

[0126] SEQ ID NO:5 and SEQ ID NO:6.

[0127] Kit 2: a kit for detecting the mutant PITX3 gene, comprising one or more nucleic acid probes, the mutation is the mutation c.608delC of the PITX3 gene, and the genome sequence of the probe and the mutant PITX3 gene is selected from the following positions Or complementary to the region on the cDNA coding region sequence: the 608th position of the PITX3 gene cDNA coding region seq...

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Abstract

The invention relates to the field of disease related mutant genes, in particular to gene mutation of hereditary diseases, provides CC (congenital cataract) related gene mutation, and particularly provides a CC related PITX3 gene mutation as well as a detection method and an application thereof. Specifically, the invention discloses the PiTX3 gene or protein comprising the following mutant: c.608delC / p.A203fs.

Description

technical field [0001] The invention relates to the field of disease-related mutation genes, in particular to genetic disease gene mutations and congenital cataract-related gene mutations. Background technique [0002] Any factor that causes lens turbidity to reduce its transparency can be called cataract (cataract). It is estimated that about 25% of people in the world suffer from cataract, and most people have less lens turbidity and do not significantly affect vision. However, cataract is still the world's first blinding eye disease, and there are 1.25 million new cataract blind or visually disabled patients every year. Cataract is divided into congenital cataract (CC) and senile cataract (age-related cataract) according to the age of onset. Congenital cataracts are defined as partial or total clouding of the lens that occurs before birth or develops gradually after birth. Although congenital cataract is not as common as senile cataract, it is a common eye disease in ch...

Claims

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Application Information

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IPC IPC(8): C12N15/12C07K14/47C12Q1/68C12N15/11G01N33/68
Inventor 周青刘辉谌于蓝朱健生管李萍姚登攀
Owner BGI GENOMICS CO LTD
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