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Iranian Journal of Reproductive Medicine
Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences of Yazd
ISSN: 1680-6433
EISSN: 2008-2177
Vol. 3, No. 1, 2005, pp. 9-13
Bioline Code: rm05002
Full paper language: English
Document type: Research Article
Document available free of charge

Iranian Journal of Reproductive Medicine, Vol. 3, No. 1, 2005, pp. 9-13

 en Mutation detection in human estrogen receptor βb gene in infertile male patients by denaturing high-performance liquid chromatography
Omrani, Mir Davood & Nordenskhold, Agneta

Abstract

Background: For screening sequence variations in genes, rapid turnover time is of fundamental importance. While, many of the current methods are unfortunately time consuming and technically difficult to implement. Denaturing high-performance liquid chromatography (DHPLC) method had been shown to be a high-throughput, time saving, and economical tool for mutation screening.
Objective: In the present study DHPLC method was used to explore the potential association between estrogen receptor β gene (ESR2) variants and male infertility.
Materials and Methods: DNA from 96 men with infertility and 96 normal male as control were screened for mutation in the nine exons of the ESR2 gene, using WAVE® DHPLC device equipped with a DNA separation column and automated sequence analysis on the ABI Prism 310.
Results: DHPLC evaluation of ESR2 gene in 96 infertile patients, revealed one heterozygous sequence variation (IVS 8–4G>A) near the 5' splicing region of intron 8 in 5 patients. No variation was identified in control population.
Conclusion: Mutation detection by DHPLC, as it is presented in this context, is a high-throughput, quick, and economical tool for mutation screening. The gene alterations in ESR2 gene that we've found might increase susceptibility to infertility; but without cDNA screening, the consequences of these genetic alterations cannot be predicted.

Keywords
DHPLC, Male infertility, ESR2 gene, Mutation.

 
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Alternative site location: http://www.ijrm.ir

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