• PMID: 19886767
• Gene Name: CCNA1
• Condition: Male infertility, azoospermia or severe oligozoospermia
• Association: Not Associated
• Mutation: c.321T>C, IVS3 +32G>C, IVS5+38A>G and c.1158G>A
• Population size: 557
• Population details: 557 (347 infertile patients with azoospermia or severe oligozoospermia, 210 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: Cyclin A1
• Other associated phenotypes: Male infertility, azoospermia or severe oligozoospermia

Mutations of the cyclin A1 gene are not a common cause of male infertility

Zhoucun A, Zhang S, Yang Y.

Cyclin A1 is essential for meiosis as shown by its essential role in mouse spermatogenesis, suggesting that changes in the gene may also alter male fertility in humans. In the present study, we performed a mutation screening of the cyclin A1 gene in order to investigate the possible association between the mutations of the gene and human impaired spermatogenesis using denaturing high performance liquid chromatography (DHPLC) in 347 infertile patients with azoospermia or severe oligozoospermia and 210 fertile controls. Four point mutations, c.321T>C, IVS3 +32G>C, IVS5+38A>G and c.1158G>A, were identified, but no association of these with spermatogenesis impairment was detected, suggesting that these cyclin A1 gene mutations are unlikely a common genetic cause for impaired human spermatogenesis. FAU - Zhoucun, A AU - Zhoucun A AD - Department of Biology and Chemistry, Dali College, Dali, China. azhoucun@163.com FAU - Zhang, Sizhong AU - Zhang S