mutation detection in human estrogen receptor ? gene in infertile male patients by denaturing high-performance liquid chromatography

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 ? 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