Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest

• Published in: Journal of assisted reproduction and genetics 2014-07, Vol.31 (7), p.865-871
• Main Authors: Sarkardeh, Homa, Totonchi, Mehdi, Asadpour, Ommolbanin, Sadighi Gilani, Mohammad Ali, Zamani Esteki, Masoud, Almadani, Navid, Borjian Boroujeni, Parnaz, Gourabi, Hamid
• Format: Article
• Language: English
• Subjects: Adult; Alleles; Apoptosis; Azoospermia - congenital; Developmental biology; DNA methylation; Genetic Association Studies; Genetic Predisposition to Disease; Genetics; Genomes; Gynecology; Haplotypes; Human Genetics; Humans; Infertility; Infertility, Male - genetics; Infertility, Male - pathology; Iran; Male; Males; Medicine; Medicine & Public Health; Mutation; Oligospermia - genetics; Oligospermia - pathology; Polymorphism; Polymorphism, Single Nucleotide; Proteins; Reproductive Medicine; Research centers; RNA Helicases - genetics; RNA, Small Interfering - genetics; Spermatogenesis
• ISSN: 1058-0468; 1573-7330
• DOI: 10.1007/s10815-014-0240-1

Purpose 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