Paper Information

Journal:   INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY   SUMMER 2012 , Volume 6 , Number SUPPLEMENT 1; Page(s) 125 To 125.
 
Paper: 

MOV10L1 GENE POLYMORPHISMS ARE PROBABLY ASSOCIATED TO MALE INFERTILITY IN AZOOSPERMIC MEN WITH COMPLETE MATURATION ARREST

 
Author(s):  SARKARDEH H.*, GOURABI H., TOTONCHI M., SADIGHI GILANI M., BORJIAN BOROUJENI P., ALMADANI N.
 
* DEPARTMENT OF DEVELOPMENTAL BIOLOGY, UNIVERSITY OF SCIENCE AND CULTURE, ACECR, TEHRAN, IRAN
 
Abstract: 
Background: Thousands of genes are involved in spermatogenesis.
Alterations in any of these genes could lead to male infertility. Moloney leukemia virus 10-Like 1 (Mov10l1) gene is one of the genes that are expressed specifically in germ cells. Genetic disruption of this gene in mouse stops spermatogenesis during Meiosis I and causes azoospermia.
Materials and Methods: In this study, the genetic changes of mov10L1 gene, analyzed in a population of 30 infertile patients with a complete maturation arrest in spermatocyte level as the patient group and 70 fertile men who had at least one child as the control group.
After DNA extraction from blood samples of selected individuals, PCR-SSCP method was done to verify presence of any polymorphisms/mutations. Ultimately sequencing was used to confirm genetic changes of the mentioned gene.
Results: As a result, eight single nucleotide transitions were identified, including; a missense (rs2272837) and four nonsense polymorphisms (rs2272836, rs11704548, rs2272838, rs138271) in the exonic sequences and 3 polymorphisms (rs12170772, rs2272840, rs17248147) in the intronic regions. All these have been registered as single nucleotide polymorphisms in NCBI-SNP database.
Except rs2272838, a statistically significant association was shown in all polymorphisms between two groups (p<0.05).
Conclusion: Based on the results, it is expected that mutations and polymorphisms in mov10L1 gene could be a genetic factor in the incidence of infertility in men which requires further studies.
 
Keyword(s): AZOOSPERMIA, POLYMORPHISM, MOV10L1
 
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