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
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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 judg...

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

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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).

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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

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Application Information

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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
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