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Journal of Assisted Reproduction and Genetics

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01-08-2011 | Genetics

Study of GT-repeat expansion in Heme oxygenase-1 gene promoter as genetic cause of male infertility

Authors: Elham Siasi, Ahmad Aleyasin, Seyed Javad Mowla, Hamid Sahebkashaf

Published in: Journal of Assisted Reproduction and Genetics | Issue 8/2011

Abstract

Purpose

The length of GT-repeats polymorphic region in the promoter of human Heme oxygenase-1 gene (HO-1) alters the level of its transcriptional activity in response to oxidative stresses. Decreased level of HO-1 protein in the seminal plasma has been reported to be associated with oligospermia and azoospermia in male infertility. This is the first study to investigate the association between GT-repeats expansion in the promoter of the HO-1 gene and male infertility.

Methods

The frequencies of different GT-repeats alleles in the promoter of HO-1 gene were determined in 100 cases and 100 normal controls using PCR-PAGE, ABI fragment analysis genotyping and sequencing analysis.

Results

All alleles were classified into S and L alleles. S alleles were specified as number 0 to 3 with <27 GT-repeats and L alleles were specified as number 4 to 6 with >27 repeats. The L allele frequency was significantly higher among case group (54.5%) than that was obtained in the normal control group (37.5%). Statistical analysis provided a significant relationship between L allele and male infertility (P < 0.001).

Conclusions

This study shows for the first time that GT-repeats expansion in promoter of the HO-1 gene is associated with oligospermia and azoospermia among Iranian infertile cases.

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Title: Study of GT-repeat expansion in Heme oxygenase-1 gene promoter as genetic cause of male infertility
Authors: Elham Siasi
Ahmad Aleyasin
Seyed Javad Mowla
Hamid Sahebkashaf
Publication date: 01-08-2011
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 8/2011
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-011-9574-0

At a glance: The STEP trials

Springer Medicine

Study of GT-repeat expansion in Heme oxygenase-1 gene promoter as genetic cause of male infertility

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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