Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study.

ABSTRACT: Genetic abnormalities could account for 10% to 15% of male infertility cases, so increasing attention is being paid to gene mutations in this context. DNAH1 gene polymorphisms are highly correlated with astheno-teratozoospermia, but limited information has been reported on pathogenic variations in DNAH1 in the Chinese population. We explored 4 novel variations of the DNAH1 gene in Chinese infertile patients. Mutation screening of the DNAH1 gene was performed on 87 cases of asthenozoospermia with targeted high-throughput sequencing technology; another 200 nonobstructive azoospermia cases were further analyzed to investigate the prevalence of DNAH1 variations. The effects of the variations on protein function were further assessed by bioinformatic prediction. For carriers of DNAH1 variations

SUBMITTER: Yang X 

PROVIDER: S-EPMC6310528 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature