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Nucleic acid encoding CYP1B1 gene mutant and applications thereof

A nucleic acid and coding technology, applied in the field of genetic engineering, can solve the problem that the detection method needs to be further studied, and achieve the effect of reducing the probability

Pending Publication Date: 2020-06-19
福州福瑞医学检验实验室有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] Therefore, the determination of the causative gene of primary congenital glaucoma and the detection method of primary congenital glaucoma still need further research

Method used

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  • Nucleic acid encoding CYP1B1 gene mutant and applications thereof
  • Nucleic acid encoding CYP1B1 gene mutant and applications thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0051] Example 1 Determining the Pathogenic Mutation of Primary Congenital Glaucoma

[0052] 1. Sample source

[0053] A 2-year-old female child with primary congenital glaucoma (proband) from Fujian Province, China, only one of the probands in the three generations of her family was affected. The inventor selected the patient and her parents for glaucoma gene package detection. The proband was found to have abnormal vision development at the age of 7 months. After specialist examination, he found that the cornea was foggy, the intraocular pressure in both eyes was increased, and the light reflex was slightly slow. The clinical diagnosis was primary congenital glaucoma. The family tree of the patient with primary congenital glaucoma is as follows: figure 1 As shown, the arrow points to the proband, the solid icon indicates the patient, and the semi-solid icon indicates the carrier. Informed consent was obtained from all participants, and venous blood collection was performed...

Embodiment 2

[0066] Example 2 Sanger method sequencing

[0067] Detect the CYP1B1 gene of the primary congenital glaucoma patient described in Example 1: design primers for the c.605C>T mutation of the CYP1B1 gene, and then obtain the mutation site by PCR amplification, product purification and sequencing According to the relevant sequence, according to whether the result of sequence determination is mutant or wild type, the correlation between the c.605C>T mutation of CYP1B1 gene and primary congenital glaucoma is verified.

[0068] Specific steps are as follows:

[0069] 1. DNA extraction

[0070] Refer to the method for extracting DNA described in Example 1.

[0071] 2. Primer design and PCR reaction

[0072] First, refer to the human genome sequence database hg19 / build36.3, and design exon-specific primers for the c.605C>T mutation of the CYP1B1 gene. The specific sequence is as follows:

[0073] Upstream primer F: ATTTCTCCAGAGAGTCAGCTCCG (SEQ ID NO: 3)

[0074] Downstream primer ...

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Abstract

The invention discloses nucleic acid encoding a CYP1B1 gene mutant and applications thereof, and belongs to the technical field of genetic engineering. Compared with a wild type, the mutant has c.605C>T mutation, and the amino acid sequence of the coded polypeptide has p.Ala202Val mutation. Biological samples susceptible to primary congenital glaucoma can be effectively screened by detecting whether the novel mutant exists; a detection method is rapid, accurate and efficient; the nucleic acid can be used for the molecular diagnosis and differential diagnosis of patients with primary congenitalglaucoma, so that scientific bases can be provided for the early diagnosis and treatment of the patients with the primary congenital glaucoma; and the nucleic acid can be used for screening carrierswith the primary congenital glaucoma, so that genetic counseling advice and guidance can be provided for the carriers, and the probability that offspring suffer from the primary congenital glaucoma can be reduced.

Description

technical field [0001] The invention belongs to the technical field of genetic engineering, and specifically relates to a nucleic acid encoding a CYP1B1 gene mutant and its application. In particular, the present invention relates to isolated nucleic acids encoding CYP1B1 mutants, isolated CYP1B1 mutant polypeptides, methods of screening biological samples for predisposition to primary congenital glaucoma. Background technique [0002] Primary congenital glaucoma is a serious and rare blinding eye disease in infants and young children, and it is the most common type of glaucoma in children. There are obvious racial and regional differences in the incidence of primary congenital glaucoma. The overall incidence rate is 1:10,000 in European countries, 1:3,300 in Indian population, and 1:2,500 in Saudi Arabia in the Middle East. There are no accurate statistics on the incidence of primary congenital glaucoma in my country. According to existing reports, congenital glaucoma acco...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/53C12N9/02C12N15/11C12Q1/6883G01N33/573
CPCC12N9/0081C12Q1/6883G01N33/573C12Y114/15006C12Q2600/156G01N2333/90267G01N2800/168
Inventor 王开宇赵烨陈志伟刘毅
Owner 福州福瑞医学检验实验室有限公司
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