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SNRNP200 gene mutant and application thereof

A technology for mutants and degenerative diseases, applied in the fields of application, genetic engineering, plant genetic improvement, etc., can solve problems that need to be further studied

Active Publication Date: 2013-10-23
GENERAL HOSPITAL OF PLA +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] Therefore, the current research on primary retinitis pigmentosa still needs to be in-depth

Method used

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  • SNRNP200 gene mutant and application thereof
  • SNRNP200 gene mutant and application thereof
  • SNRNP200 gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0222] Example 1 High-throughput exome sequencing

[0223] For the probands in the aforementioned ADRP family ( figure 2 III in: 9) Exome sequencing was performed to obtain candidate de novo SNP sites.

[0224] Specific steps are as follows:

[0225] 11 Genomic DNA preparation: collection of probands in the aforementioned ADRP family ( figure 2 In III: 9) peripheral blood, 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, and the OD260 / OD280 of each sample genomic DNA was 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.

[0226] 1.2 High-throughput sequencing:

[0227] The DNA captured by the NimbleGen SeqCap EZ Human Exome Library v2.0 whole-exon capture platform was sequenced using Illumina Hiseq2000.

[0228] 1.3 Exome sequencing data analysis:...

Embodiment 2

[0230] Example 2 Sanger sequencing verification of candidate de novo SNP sites

[0231] Design primers for SNRNP200 (exon 20 2653C>G), PDE6B (exon 11 1415G>A), USH2A (exon 5997T>C), USH2A (exon 12 2750G>A) and USH2A (exon 51 10246T>G) sequences, by PCR Amplification, product purification, and sequencing methods to obtain relevant sequences. Sequencing by Sanger method confirmed that among the candidate de novo SNP sites obtained after high-throughput sequencing, SNRNP200 (exon 202653C>G), PDE6B (exon 111415G>A) and USH2A (exon 12 2750G>A) were de novo SNP sites , while USH2A (exon 51 10246T>G) and USH2A (exon 5 997T>C) were false positive sites.

[0232] 2.1 DNA extraction

[0233] Members in the aforementioned ADRP family were collected ( figure 2 II:1, II:4, III:1, III:3, III:5, III:7, III:9, III:10, IV:1, IV:2, IV:6, IV:7) Peripheral blood, the specific method is the same as step 1.1 in Example 1.

[0234] 2.2 Primer design

[0235] The PCR reaction primers were desi...

Embodiment 3d

[0244] Example 3 Sanger sequencing verification of de novo SNP sites in the family and in the normal population control group

[0245] respectively for figure 2 There are 5 RP patients (II: 1, III: 3, III: 9, IV: 6, IV: 7) and 7 normal members (II: 4, III: 1, III: 5, III: 7) in the family shown , III: 10, IV: 1, IV: 2) and 100 normal people outside the pedigree were tested. Among them, primers were designed for SNRNP200 (exon 202653C>G), PDE6B (exon 111415G>A) and USH2A (exon 122750G>A) sequences, and relevant sequences were obtained by PCR amplification, product purification and sequencing. Mutant type or wild type, verify the correlation between the above three heterozygous mutations and RP. The specific method steps are as follows:

[0246] 3.1 DNA extraction: respectively in the family ( figure 2 ) 5 RP patients (II: 1, III: 3, III: 9, IV: 6, IV: 7), 9 normal members (II: 4, III: 1, III: 5, III: 7, III: 10. IV:1, IV:2, IV:3, IV:4) and peripheral venous blood of 100 ...

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Abstract

The invention relates to an isolated nucleic acid for coding an SNRNP200 mutant, an isolated polypeptide, a method, system and kit for screening a biological sample which is susceptible to the primary pigmentary degeneration of the retina and a method for screening a medicament for treating or preventing the primary pigmentary degeneration of the retina. Compared with the SEQ ID NO: 1, the sequence of the isolated nucleic acid for coding the SNRNP200 mutant has c. C2653G mutation. The susceptibility of the biological sample to the primary pigmentary degeneration of the retina can be detected effectively by detecting whether the new mutant exists in the biological sample.

Description

technical field [0001] The present invention relates to SNRNP200 gene mutant and application thereof. Specifically, the present invention relates to isolated nucleic acids encoding SNRNP200 mutants, isolated polypeptides, methods for screening biological samples susceptible to primary retinitis pigmentosa, and systems for screening biological samples susceptible to primary retinitis pigmentosa , a kit for screening biological samples susceptible to primary retinitis pigmentosa disease and a method for screening a drug for treating or preventing primary retinitis pigmentosa disease. Background technique [0002] Primary retinitis pigmentosa (retinitis pigmentosa, sometimes referred to as "RP" in this article) is the most common hereditary blinding disease, with an incidence rate of about 1 / 3500 to 1 / 5000 in the world. The incidence rate is about 1 / 3467, and it has become a major eye disease that threatens the visual function and quality of young and middle-aged people around...

Claims

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Application Information

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IPC IPC(8): C12N15/55C12N9/14C12Q1/68C12M1/34C12Q1/02
Inventor 刘铁城金鑫章雪敏张宝全吴婧肖若王俊汪建杨焕明
Owner GENERAL HOSPITAL OF PLA
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