Aim: We describe an approach to search for candidate genes for male infertility using the two human genome databases: the public University of California at Santa Cruz (UCSC) and private Celera databases which list kn...Aim: We describe an approach to search for candidate genes for male infertility using the two human genome databases: the public University of California at Santa Cruz (UCSC) and private Celera databases which list known and predicted gene sequences and provide related information such as gene function, tissue expression,known mutations and single nucleotide polymorphisms (SNPs). Methods and Results: To demonstrate this in silico research, the following male infertility candidate genes were selected: (1) human BOULE, mutations of which may lead to germ cell arrest at the primary spermatocyte stage, (2) mutations of casein kinase 2 alpha genes which may cause globozoospermia, (3) DMR-N9 which is possibly involved in the spermatogenic defect of myotonic dystrophy and (4) several testes expressed genes at or near the breakpoints of a balanced translocation associated with hypospermatogenesis. We indicate how information derived from the human genome databases can be used to confirm these candidate genes may be pathogenic by studying RNA expression in tissue arrays using in situ hybridization and gene sequencing. Conclusion: The paper explains the new approach to discovering genetic causes of male infertility using information about the human genome. ( Asian J Andro1 2003 Jun; 5:137-147 )展开更多
We previously investigated the progesterone metabolite 5β-dihydroprogesterone (5βDHP) in relation to human parturition at term, demonstrating that peripheral venous concentrations decrease in association with the on...We previously investigated the progesterone metabolite 5β-dihydroprogesterone (5βDHP) in relation to human parturition at term, demonstrating that peripheral venous concentrations decrease in association with the onset of spontaneous labour. In this study our aim was to determine if 5βDHP concentrations were lower in women presenting in spontaneous preterm labour than in controls matched for gestational age. Blood samples were obtained from women presenting in spontaneous preterm labour (n = 20). The diagnosis was made on the presence of regular contractions and cervical effacement and dilatation of at least 3 cms. All women in the preterm labour group delivered before 37 weeks gestation. Blood samples were then obtained from controls, closely matched for gestational age with uncomplicated pregnancies. The preterm labour group was further stratified by cause into three groups, chorioamnionitis (n = 5), abruption (n = 4) and idiopathic (n = 11). Following organic solvent extraction, steroids were separated by HPLC and 5βDHP quantified by radioimmunoassay. Women in the idiopathic preterm labour group were found to have significantly lower circulating concentrations of 5βDHP than controls展开更多
文摘Aim: We describe an approach to search for candidate genes for male infertility using the two human genome databases: the public University of California at Santa Cruz (UCSC) and private Celera databases which list known and predicted gene sequences and provide related information such as gene function, tissue expression,known mutations and single nucleotide polymorphisms (SNPs). Methods and Results: To demonstrate this in silico research, the following male infertility candidate genes were selected: (1) human BOULE, mutations of which may lead to germ cell arrest at the primary spermatocyte stage, (2) mutations of casein kinase 2 alpha genes which may cause globozoospermia, (3) DMR-N9 which is possibly involved in the spermatogenic defect of myotonic dystrophy and (4) several testes expressed genes at or near the breakpoints of a balanced translocation associated with hypospermatogenesis. We indicate how information derived from the human genome databases can be used to confirm these candidate genes may be pathogenic by studying RNA expression in tissue arrays using in situ hybridization and gene sequencing. Conclusion: The paper explains the new approach to discovering genetic causes of male infertility using information about the human genome. ( Asian J Andro1 2003 Jun; 5:137-147 )
文摘We previously investigated the progesterone metabolite 5β-dihydroprogesterone (5βDHP) in relation to human parturition at term, demonstrating that peripheral venous concentrations decrease in association with the onset of spontaneous labour. In this study our aim was to determine if 5βDHP concentrations were lower in women presenting in spontaneous preterm labour than in controls matched for gestational age. Blood samples were obtained from women presenting in spontaneous preterm labour (n = 20). The diagnosis was made on the presence of regular contractions and cervical effacement and dilatation of at least 3 cms. All women in the preterm labour group delivered before 37 weeks gestation. Blood samples were then obtained from controls, closely matched for gestational age with uncomplicated pregnancies. The preterm labour group was further stratified by cause into three groups, chorioamnionitis (n = 5), abruption (n = 4) and idiopathic (n = 11). Following organic solvent extraction, steroids were separated by HPLC and 5βDHP quantified by radioimmunoassay. Women in the idiopathic preterm labour group were found to have significantly lower circulating concentrations of 5βDHP than controls
