P-236: Haplotype Analysis of The H2B.W Gene in Severe Oligospermic and Azoospermic Infertile Men Referred to Royan Institute
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Abstract:
Background: Recent studies demonstrated the multifactorial and chronic nature of male infertility, including mutations of some known spermatogenesis-related genes. The H2B family, member W (H2B.W) gene is one of the testis specific histone variant genes that encodes a sperm telomere-binding protein, required for reorganization and integration of sperm chromosomes. The objective of the present study was to find the association of −9C>T (rs7885967) and 368A>G (rs553509) (CA, TA, CG, TG) haplotypes in H2B.W gene with Iranian male infertility. Materials and Methods: Haplotype frequencies of these single nucleotide polymorphisms in the peripheral blood samples of 92 infertile men suffering from severeoligospermia(46) and azoospermia(46) (including patient with sertoli cell only syndrome (SCOS)(21), complete maturation arrest (CMA) (17) and hypo spermatogenesis (8) according to testicular biopsy) and 60 fertile men with normal semen parameters referred to Royan Institute were analyzed by Polymerase Chain Reaction and restriction fragment length polymorphism technique (PCR-RFLP). The frequencies of these haplotypes were assessed using logistic regression analysis. Results: The haplotype TA compared with haplotype CA in patients suffering from CMA significantly increased, compared with patients who had SCOS (p<0.05). However, our data showed that in general, the distribution frequencies of these haplotype had no significant difference between the infertile groups and control.Conclusion: As this gene was expressed in the late stages of spermatogenesis, it can be concluded that haplotype TA might arrest maturation process of spermatids during spermatogenesis.
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Journal title
volume 8 issue 2.5
pages 246- 246
publication date 2014-07-01
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