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New virulence gene for severe asthenospermia, and application thereof

A technique for asthenozoospermia and pathogenic genes, which is applied in new pathogenic genes of severe asthenospermia and its application field, can solve abnormal sperm tail morphology and movement, incomplete discovery, unclear relationship between genotype and phenotype, etc. question

Inactive Publication Date: 2017-09-15
厦门市妇幼保健院 +2
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Early studies on the pathogenesis of molecular pathogenesis in foreign countries found mutations in AKAP3, AKAP4, SLC26A8, DNAH1, CATSPER2, GALNTL5 and other genes (1. Takasaki N, Tachibana K, Ogasawara S, Matsuzaki H, Hagiuda J, Ishikawa H, Mochida K, Inoue K, Ogonuki N, Ogura A, Noce T, Ito C, Toshimori K and Narimatsu H. A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility. Proc Natl Acad Sci U S A. 2014;111(3):1120-1125;2 .Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dμlioust E, Gacon G, Bienvenu T and Toure A.Missense mutations in SLC26A8 ,encoding a sperm-specific activator of CFTR,are associated with humanasthenozoospermia.Am J Hum Genet.2013;92(5):760-766.), and lead to abnormal morphology and movement of sperm tail
[0003] At present, the gene mutation spectrum of severe asthenospermia has not been fully discovered, and the relationship between genotype and phenotype is not clear

Method used

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  • New virulence gene for severe asthenospermia, and application thereof
  • New virulence gene for severe asthenospermia, and application thereof
  • New virulence gene for severe asthenospermia, and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0050] Example 1 Determine the causative gene of severe asthenozoospermia.

[0051]The present invention collects cases of two twins suffering from severe asthenozoospermia in a consanguineous marriage family, and both patients are infertile. The proband was 29 years old. His parents were married to three generations of aunts and cousins. He gave birth to 3 boys and 1 girl. The elder brother gave birth to 1 child, the younger sister gave birth to two children, and the twin brothers were infertile. The proband had normal development of external genitalia, normal size of bilateral testes, and no palpable abnormality of bilateral spermatic veins. The karyotype analysis of peripheral blood was normal, and the detection of Y chromosome microdeletion showed no abnormality. No upper respiratory tract diseases such as bronchiectasis, no visceral transposition, no history of sinusitis. The average value of the three semen tests in our hospital was 2.8ml of semen volume, 27.5 million ...

Embodiment 2

[0062] Example 2 confirms the causative gene of the severe asthenozoospermia mentioned above in other cases.

[0063] The invention includes all patients with severe asthenozoospermia, and verifies that the SPAG17 gene is the pathogenic gene of severe asthenospermia. In the verification, the Sanger method was used to verify the mutation of the SPAG17 gene, which took into account the verification of samples within the family.

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PUM

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Abstract

The invention relates to a virulence gene, and concretely relates to a new virulence gene for severe asthenospermia, and an application thereof. The new virulence gene SPAG17 for severe asthenospermia is found for the first time. A severe asthenospermia affected family and severe asthenospermia affected individuals are researched, and the affected individuals in the family undergo exome sequencing and comparison to find the gene mutation of the SPAG17 gene of the patients. The mutation is used to detect the severe asthenospermia.

Description

technical field [0001] The invention relates to a disease-causing gene, in particular to a new disease-causing gene for severe asthenozoospermia and its application. Background technique [0002] Severe asthenospermia is a relatively common teratozoospermia that causes male infertility. It is a disease related to genetics, lifestyle and other factors. Its main clinical feature is the severe loss of sperm motility. Early studies on the pathogenesis of molecular pathogenesis in foreign countries found mutations in AKAP3, AKAP4, SLC26A8, DNAH1, CATSPER2, GALNTL5 and other genes (1. Takasaki N, Tachibana K, Ogasawara S, Matsuzaki H, Hagiuda J, Ishikawa H, Mochida K, Inoue K, Ogonuki N, Ogura A, Noce T, Ito C, Toshimori K and Narimatsu H. A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility. Proc Natl Acad Sci U S A. 2014;111(3):1120-1125;2 .Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 沙艳伟李萍李琳张玲许晓慧邓冰冰何雪梅林津叶雅萍高海杰陈静王雄
Owner 厦门市妇幼保健院
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