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CYP4V2 gene mutant and application thereof

A technology of mutants and disease-causing genes, applied to CYP4V2 gene mutants and its application fields

Inactive Publication Date: 2015-01-07
THE FIRST AFFILIATED HOSPITAL OF THIRD MILITARY MEDICAL UNIVERSITY OF PLA
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004]Therefore, the current research on primary crystalline retinal degenerative diseases still needs to be further studied

Method used

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  • CYP4V2 gene mutant and application thereof
  • CYP4V2 gene mutant and application thereof
  • CYP4V2 gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0070] Example 1 Sanger sequencing verification of candidate CYP4V2

[0071] Primers were designed for the CYP4V2 (exon1-11) sequence, and related sequences were obtained by PCR amplification, product purification and sequencing.

[0072] 1.1 DNA extraction

[0073] The proband in a family with BCD ( figure 2 II in: 1) Peripheral blood, use the conventional phenol-chloroform method to extract the genomic DNA in the peripheral blood leukocytes, use a spectrophotometer to measure the concentration and purity of the DNA, the OD260 / OD280 of the genomic DNA of each sample obtained is located at 1.7 Between -2.0, the concentration is not less than 200ng / microliter, and the total amount is not less than 30 micrograms.

[0074] 1.2 Primer design

[0075] The PCR reaction primers were designed with reference to the human genome sequence, see Table 1 below for details

[0076]

[0077] PCR reaction system: 25 microliters

[0078] System composition volume DNA t...

Embodiment 2Y343

[0081] Example 2 The Sanger method sequencing verification of the Y343D mutation site in the normal population control group

[0082] Respectively figure 2 The genes of BCD patients in the indicated family and 100 normal persons outside the family were detected. Among them, primers were designed for the CYP4V2 (exon81027T>G) sequence, the relevant sequence was obtained by PCR amplification, product purification, and sequencing, and the correlation between the above heterozygous mutation and BCD was verified according to whether the sequence was determined to be mutant or wild type. . The specific method steps are as follows:

[0083] 2.1 DNA extraction: respectively for the family ( figure 2 ) Genomic DNA was extracted from the peripheral venous blood of 2 normal members (I:1, I:2) and 100 normal people who had no blood relationship with the family according to the method described in Section 1.1 of Example 1, and the DNA content was measured with a spectrophotometer.

...

Embodiment 3

[0088] Example 3 CYP4V2p.Y343D species conservation analysis

[0089] The inventors used the NCBI database to compare the species homology of the CYP4V2 gene (http: / / www.ncbi.nlm.nih.gov / sites / entrez?cmd=Retrieve&db=homologene&dopt=MultipleAlignment&list_uids=5859), the results are shown in Figure 5 . Figure 5 Sequence alignment results of CYP4V2 proteins from multiple species are shown. Depend on Figure 5 It can be known that CYP4V2Y343D is highly conserved in mammals, indicating that tyrosine 343 and 343 of CYP4V2 protein are conserved among species.

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Abstract

The invention provides a CYP4V2 gene mutant and an application thereof, belonging to the field of medical molecular biology. The invention applies to protect the separated new CYP4V2 mutant pathogenic gene of Bietti crystalline dystrophy (BCD) and a mutant polypeptide thereof on the one hand. The gene is characterized in that compared with genes coding wild type CYP4V2 proteins, such as nucleotide sequences shown in SEQ ID NO:1, a nucleic acid sample of the mutant pathogenic gene has the characteristic that the (1027) basic group suffers from T>G mutation. Based on the separated pathogenic mutant gene, the invention further provides a method, system and kit for screening biological samples susceptible to BCD as well as a method for screening medicines for treating or preventing BCD.

Description

technical field [0001] The present invention relates to the field of medical molecular biology, in particular to the nucleic acid of the isolated CYP4V2 mutant, the isolated polypeptide, a method for screening biological samples susceptible to primary crystal-like retinal degenerative diseases, and a method for screening susceptible primary crystals A system for biological samples of crystalline retinal degenerative diseases, a kit for screening biological samples susceptible to primary crystalline retinal degenerative diseases, and a method for screening drugs for treating or preventing primary crystalline retinal degenerative diseases. [0002] Background technique [0003] Primary crystalline retinal degeneration (Bietti's crystalline dystrophy, sometimes abbreviated as "BCD" in this article) is a common hereditary blinding disease with an incidence of about 1 / 24,000 in the world, and its high incidence population is Chinese , the incidence rate in my country is about 1 / 40...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C12Q1/68C12Q1/02C12M1/34C07K14/47G01N33/68
Inventor 孟晓红阴正勤徐海伟黎其友李世迎刘勇
Owner THE FIRST AFFILIATED HOSPITAL OF THIRD MILITARY MEDICAL UNIVERSITY OF PLA
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