Document Detail
Mutation detection in human estrogen receptor βb gene in infertile male patients by denaturing high-performance liquid chromatography
Abstract/OtherAbstract :
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.
Authors :
Omrani, Mir Davood, Nordenskhold, Agneta
Contributors :
Publication Detail :
Publisher :  Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences of Yazd     Type :  AA     Format :  html    
Date Detail :
Subject :
DHPLC, Male infertility, ESR2 gene, Mutation.
Coverage :
Origin of publication: Iran
Relation :;
Source :
Iranian Journal of Reproductive Medicine (ISSN: 1680-6433) Vol 3 Num 1
Copyright Information :
Copyright 2005 - Iranian Journal of Reproductive Medicine
Other Details :
Languages :  en    
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