New virulence gene for severe asthenospermia, and application thereof

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 ...

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

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