title: Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest.
abstract: OBJECTIVE
  The present research was undertaken to study probable genetic variations of MOV10L1 in 30 infertile men that had complete maturation arrest in their spermatocyte levels and 70 fertile men as the control group.
  
  
  METHODS
  We performed polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) on extracted DNAs and sequencing was used to confirm the results. Identified polymorphisms in the MOV10L1 were further subjected to a haplotype analysis.
  
  
  RESULTS
  We identified eight single nucleotide polymorphisms (SNPs): one missense (rs2272837) and four nonsense polymorphisms (rs2272836, rs11704548, rs2272838, rs138271) in the exonic sequences and three polymorphisms (rs12170772, rs2272840, rs17248147) in the intronic regions. With the exception of rs2272838, there was a statistically significant association in all polymorphisms between study population (P < 0.05). The result of haplotyping analysis showed ten possible haplotypes, from which five were significantly increased in infertile patients compared with the control group.
  
  
  CONCLUSIONS
  Our results suggest that MOV10L1 gene polymorphisms in the studied infertile males with complete maturation arrest are linked to infertility.
authors.affiliation: Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, P.O. Box 19395-4644, Tehran, Iran.
authors.forename: Homa
authors.initials: H
authors.lastname: Sarkardeh
authors.forename: Mehdi
authors.initials: M
authors.lastname: Totonchi
authors.forename: Ommolbanin
authors.initials: O
authors.lastname: Asadpour
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Sadighi Gilani
authors.forename: Masoud
authors.initials: M
authors.lastname: Zamani Esteki
authors.forename: Navid
authors.initials: N
authors.lastname: Almadani
authors.forename: Parnaz
authors.initials: P
authors.lastname: Borjian Boroujeni
authors.forename: Hamid
authors.initials: H
authors.lastname: Gourabi
mesh_terms: D000328:Adult; D000483:Alleles; D053713:Azoospermia / Q000151:congenital; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D007492:Iran; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D020365:RNA Helicases / Q000235:genetics*; D034741:RNA, Small Interfering / Q000235:genetics
chemical_list: D034741:RNA, Small Interfering; C530476:Mov10 protein, human; D020365:RNA Helicases