Unlock instant, AI-driven research and patent intelligence for your innovation.

CARD9 gene mutant and application thereof

A mutant, c.191instgct technology, used in applications, genetic engineering, plant genetic improvement, etc.

Active Publication Date: 2015-04-01
TIANJIN MEDICAL LAB BGI
View PDF0 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] Therefore, the current research on phaeohyphomycosis still needs to be deepened and improved.

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • CARD9 gene mutant and application thereof
  • CARD9 gene mutant and application thereof
  • CARD9 gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0087] Example 1 Exon sequencing to determine the mutation site

[0088] Select three cases (D6-1, D6-3, D6-4 (wherein, D6-1 and D6-3 are patients from Peking University First Hospital; D6-4 is a patient from Shandong Qilu Hospital)) confirmed Perform exome sequencing and data analysis for sporadic patients with phaeohyphomycosis. The specific procedures are as follows:

[0089] First, the inventors sequenced the exome sequences of the three patients using NimbleGen 2.1M Human Exome Array combined with Solexa high-throughput sequencing technology, as follows:

[0090] 1) The genomic DNA of the patient sample was randomly broken into fragments of about 200-300 bp, and then according to the operating instructions provided by the manufacturer, adapters were connected to both ends of the fragments to prepare a hybrid library. After purification, the library undergoes linear amplification of Linker Mediated PCR (LM-PCR) and hybridization enrichment with Biotinylated DNA Library, a...

Embodiment 2

[0095] Example 2 Sanger method sequencing verification

[0096] 3 patients (D6-1, D6-3, D6-4), 6 normal people in the family (that is, the parents of the 3 patients, none of them had the disease), and a sporadic patient (from Wuhan No. Hospital) gene detection, design primers for all exon sequences of CARD9 gene, and then obtain CARD9-related sequences by PCR amplification, product purification and sequencing, and verify whether CARD9 is mutant or wild-type according to the sequence determination results Association with phaeohyphomycosis disease. The specific method steps are as follows:

[0097] 2.1 DNA extraction

[0098] The peripheral blood of the above-mentioned 4 patients with phaeohyphomycosis and 6 normal people in the family were collected respectively, and then the genomic DNA in the peripheral blood leukocytes was extracted by the conventional phenol-chloroform method, and the concentration of the extracted DNA was measured by a spectrophotometer and purity, the...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention relates to an isolated nucleic acid for coding a CARD9 mutant, an isolated polypeptide, a method for screening a biological sample susceptible to dematiaceous fungi, a system for screening a biological sample susceptible to dematiaceous fungi, a kit for screening a biological sample susceptible to dematiaceous fungi and a method for screening a drug for treating or preventing phaeohyphomycosis, wherein compared with SEQ ID NO: 1, the isolated nucleic acid for coding the CARD9 mutant has at least one mutant selected from c.G241A, c.G104A, c.G472T, c.191insTGCT and c.818insG. Whether the biological sample is susceptible to dematiaceous fungi can be effectively detected by detecting whether the mutants exist in the biological sample.

Description

technical field [0001] The present invention relates to CARD9 gene mutant and application thereof. Specifically, the present invention relates to an isolated nucleic acid encoding a CARD9 mutant, an isolated polypeptide, a method for screening biological samples of susceptible dusky fungi, a system for screening biological samples of susceptible dark fungi, a A kit for screening biological samples susceptible to phaeohyphomycosis, and a method for screening drugs for treating or preventing phaeohyphomycosis. Background technique [0002] Phaeohyphomycosis is a skin, subcutaneous tissue or systemic infection caused by a group of dark fungi characterized by dark hyphae in the tissue. Ajello proposed this name in 1974. Phaeohyphomycosis has been reported in sporadic cases around the world, but is more common in the tropics. Sporadic cases have been reported in Shandong, Northeast China and Zhanjiang in my country. Pathogenic pathways are mainly exogenous infection and condi...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/31C07K14/37C12Q1/68C12M1/34C12Q1/02C12R1/645
Inventor 管李萍刘轩竹王俊汪建杨焕明
Owner TIANJIN MEDICAL LAB BGI