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Novel azoospermia pathogenic gene and application thereof

A technology of sperm and genes, applied in the new pathogenic gene of acephalospermia and its application field, can solve the problems of incomplete discovery of acephalospermia and unclear relationship between genotype and phenotype

Active Publication Date: 2017-12-15
厦门市妇幼保健院 +3
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] At present, the gene mutation spectrum of acephalospermia has not been fully discovered, and the relationship between genotype and phenotype is not clear

Method used

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  • Novel azoospermia pathogenic gene and application thereof
  • Novel azoospermia pathogenic gene and application thereof
  • Novel azoospermia pathogenic gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0068] Example 1 Determining the causative gene of acephalospermia.

[0069] A total of 14 cases of acephalospermia were collected, and all patients showed infertility, typical characteristics of acephalospermia such as headless, pin-like head or loose connection between head and tail.

[0070] Whole-exome sequencing was performed on all patients, and the specific steps were as follows:

[0071] Sample preparation: Collect the peripheral blood of the patient and his parents and family members, use the kit to extract the genomic DNA in the peripheral blood leukocytes (QIAamp DNA Mini Kit 51304.Qiagen, USA), and use the NanoDrop 2000 to measure the concentration and purity of the DNA (Thermo Scientific , USA), the OD260 / OD280 of the genomic DNA of each sample obtained was between 1.7 and 2.0, the concentration was not less than 100ng / μl, and the total amount was not less than 30μl.

[0072] Then, the exome sequences of the above four samples were sequenced. The sequencing plat...

Embodiment 2

[0082] Example 2 confirms the above-mentioned causative gene of acephalospermia in other cases.

[0083] The inventor included all patients with acephalospermia, and verified that the TSGA10 gene is the pathogenic gene of acephalospermia. In the verification, the Sanger method was used to verify the mutation of the TSGA10 gene, and the verification of samples within the family, outside the family, and sporadic samples were considered.

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Abstract

The invention relates to a novel azoospermia pathogenic gene and an application thereof and relates to a marker for azoospermia disease and the application thereof. The novel azoospermia pathogenic gene TSGA10 is firstly discovered in the manner of screening in large scale. After patient individuals in the family are subjected to exome sequencing and comparison on the basis of multiple azoospermia families and patient individuals as research objects, different patients are proved as carrying TSGA10 gene mutations. These gene mutations can be utilized to detect the azoospermia.

Description

technical field [0001] The invention relates to a disease-causing gene, in particular to a new disease-causing gene of acephalospermia and its application. Background technique [0002] Acephalic spermatozoa (acephalic spermatozoa) is a recessively inherited teratozoospermia that causes male infertility. It is a rare genetic disease. Its main clinical feature is that the sperm does not have a head or there is a gap between the head and the tail. The connection is loose. Earlier studies also referred to the disease as decapitated spermatozoa or pinhead sperm. Early international studies on molecular pathogenesis found mutations in the SUN5 gene (Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, He X, Zhou P, Wei Z, Gecz J and Cao Y. Biallelic SUN5 Mutations Cause Autosomal -Recessive Acephalic Spermatozoa Syndrome. Am J Hum Genet. 2016;99(4):942-949). [0003] At present, the gene mutation spectrum of acephalospermia has not been fully discovered, and the relationship between...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11G01N33/68
CPCC12Q1/6883C12Q2600/156G01N33/6893G01N2333/47G01N2800/367
Inventor 沙艳伟李萍沙艳坤李琳王雄苏志英许晓慧何晓琴钟晓红纪红丁露王龙海黄娴静
Owner 厦门市妇幼保健院
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