Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men

摘要

Objective To evaluate the carrier frequency of the pathogenic c.144delC mutation in AURKC gene and the contribution of this mutation in male infertility in a Moroccan population. Design Sanger sequencing of exon 3 in AURKC gene in infertile and control patients in Morocco. Setting Research institute. Patient(s) A total of 326 idiopathic infertile patients, and 450 age-related men. Intervention(s) The incidence of AURKC c.144delC mutation was determined in men with unexplained spermatogenic failure and a control cohort of normospermic fertile men. Main Outcome Measure(s) Genomic DNA was extracted from peripheral blood lymphocytes and the screening of the c.144delC mutation in AURKC gene performed by polymerase chain reaction and sequencing. Result(s) The c.144delC mutation in AURKC gene was found in patients at homozygous and heterozygous states, with an allelic frequency of 2.14%, whereas in controls this mutation was found only in the heterozygous state, with lower frequency (1%). Homozygous patients were characterized by macrocephalic and multiflagellar spermatozoa. Conclusion(s) Our data indicate that the AURKC c.144delC mutation has a relatively high carrier frequency in the Moroccan population; thus, we recommend screening for this deletion in infertile men with a high percentage of large-headed and multiflagellar spermatozoa.