title: [Confirmation of the high prevalence in Morocco of the homozygous mutation c.144delC in the aurora kinase C gene (AURKC) in the teratozoospermia with large-headed spermatozoa].
abstract: OBJECTIVE
  To confirm the recurrent character of the mutation c.144delC in the aurora kinase C (AURKC) gene in Morocco and determine the indication and the interest of the research of this anomaly.
  
  
  METHODS
  We looked for the mutation c.144delC in the AURKC gene in 18 infertile Moroccan patients. They were seen in medical genetic consultation within the framework of the preparatory assessment for medically-assisted procreation. Genomic DNA was extracted from 5 ml of EDTA-blood. The gene AURKC exon 3 was amplified by PCR then sequenced by using the Big-Dye Terminator V3.1 kit and an ABI Prism 310 Genetic Analyzer (Applied Biosystems).
  
  
  RESULTS
  All the patients who had a typical phenotype with high rates of large-headed spermatozoa were homozygous for the mutation c.144delC in the AURKC gene.
  
  
  CONCLUSIONS
  We confirm in this study the research interest of the recurrent mutation c.144delC in the gene AURKC in male infertility with high rates of large-headed spermatozoa. This molecular analysis avoids to many infertile couples unnecessary expenses and succession failures in case of use of medically-assisted procreation (MAP).
authors.affiliation: Département de génétique médicale, Institut national d'hygiène, 27, avenue Ibn Batouta, BP 769, Rabat, Maroc.
authors.forename: F
authors.initials: F
authors.lastname: El Kerch
authors.forename: A
authors.initials: A
authors.lastname: Lamzouri
authors.forename: F Z
authors.initials: FZ
authors.lastname: Laarabi
authors.forename: M
authors.initials: M
authors.lastname: Zahi
authors.forename: B
authors.initials: B
authors.lastname: Ben Amar
authors.forename: A
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D000328:Adult; D064108:Aurora Kinase C; D064127:Aurora Kinases; D006720:Homozygote; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D009018:Morocco / Q000453:epidemiology; D009154:Mutation; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013077:Sperm Head
chemical_list: C576927:AURKC protein, human; D064108:Aurora Kinase C; D064127:Aurora Kinases; D017346:Protein Serine-Threonine Kinases