Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Application of C12orf40 gene

A gene and mutant technology, applied in the application field of C12orf40 gene, can solve the problems of lack of functional research evidence, inability to judge the mutation, and unknown clinical significance of gene mutation.

Pending Publication Date: 2022-08-09
REPRODUCTIVE & GENETIC HOSPITAL OF CITIC XIANGYA CO LTD +1
View PDF0 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] However, after a considerable number of NOA patients undergo genetic testing, due to the lack of functional research evidence for the detected gene variation, it is impossible to judge whether the variation is related to NOA, which is called "variation of unknown clinical significance", which brings great potential for precise prevention and treatment of NOA patients challenge

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
  • Application of C12orf40 gene
  • Application of C12orf40 gene
  • Application of C12orf40 gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0046] In clinical research practice, we identified a new C12orf40 splice site variant (NM_001031748.4, c.1286+1G>A) of the pathogenic gene causing azoospermia by whole exome sequencing technology. No haploid sperm was found in the biopsy tissue, showing non-obstructive azoospermia, the gene is specifically expressed in testis tissue and not expressed in other tissues (eg figure 1 shown).

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 application of a C12orf40 gene. In clinical scientific research and practice, the inventor screens and identifies a disease-causing gene C12orf40 cleavage site variation (NM001031748.4, c.1286 + 1Ggt; a), no haploid sperms are found in testis biopsy tissues of a patient, and non-obstructive azoospermia is shown. The gene is specifically expressed in testis tissues, is not expressed in other tissues, can be used as a biomarker of the non-obstructive azoospermia, and is beneficial to further research on a mechanism of the non-obstructive azoospermia and exploration on treatment of the non-obstructive azoospermia.

Description

technical field [0001] The invention relates to the technical field of reproductive genetics, in particular to the application of a C12orf40 gene related to non-obstructive azoospermia. Background technique [0002] Male infertility is a phenotypically heterogeneous disease caused by multiple factors, including oligospermia, asthenia, teratozoospermia, azoospermia, and other unexplained male infertility. Among them, non-obstruction azoospermia (NOA) is the most serious phenotype of male infertility, mainly caused by genetic defects including chromosomal abnormalities, Y chromosome AZF microdeletions, and gene mutations. Due to the disorder of spermatogenesis, there is currently a lack of clinical treatment methods to restore the spermatogenic function of patients, and the next generation is mainly produced by donor sperm. With the widespread application of next-generation sequencing technology represented by whole-exome sequencing in the screening of genetic disease pathoge...

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
IPC IPC(8): C12Q1/6883C12N15/11C12Q1/686G01N33/68
CPCC12Q1/6883C12Q1/686G01N33/6893C12Q2600/156G01N2800/367C12Q2521/107Y02A50/30
Inventor 涂超峰谭跃球林戈蒙岚岚王韦力谭琛李永张欢聂洪川
Owner REPRODUCTIVE & GENETIC HOSPITAL OF CITIC XIANGYA CO LTD
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com