To evaluate a possible correlation between abnormal semen consistency and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and variant tracts. Study of CFTR mutations and variant tracts in men...To evaluate a possible correlation between abnormal semen consistency and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and variant tracts. Study of CFTR mutations and variant tracts in men with high semen viscosity as compared with normospermic men. Universitybased centers for andrology, clinical biochemistry, and cystic fibrosis. Fortysix male partners from infertile couples with sine causa high semen viscosity compared with 72 normospermic men. Semen sample collection. We obtained the (TG) mTn polymorphic tracts and a panel of 31 mutations of CFTR, semen viscosity, and semen variables. The frequencies of the (TG) 12 and T5 variant alleles were statistically significantly higher in men with high semen viscosity (17.4%and 7.6%, respectively) than in the normospermic control group (6.9%and 1.4%, respectively). The frequency of the genotypes carrying (TG)12 or T5 was statistically significantly higher in men with high semen viscosity (39.1%) than in the normospermic control group (16.7%). Four men with high semen viscosity showed the variant (TG)12T5 haplotype; one of these men presented variant tracts on both alleles. None of the normospermic controls showed a (TG)12T5 haplotype. Semen hyperviscosity could be considered a minimal clinical expression of cystic fibrosis; CFTR gene sequence variations may constitute the genetic basis for this disease.展开更多
文摘To evaluate a possible correlation between abnormal semen consistency and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and variant tracts. Study of CFTR mutations and variant tracts in men with high semen viscosity as compared with normospermic men. Universitybased centers for andrology, clinical biochemistry, and cystic fibrosis. Fortysix male partners from infertile couples with sine causa high semen viscosity compared with 72 normospermic men. Semen sample collection. We obtained the (TG) mTn polymorphic tracts and a panel of 31 mutations of CFTR, semen viscosity, and semen variables. The frequencies of the (TG) 12 and T5 variant alleles were statistically significantly higher in men with high semen viscosity (17.4%and 7.6%, respectively) than in the normospermic control group (6.9%and 1.4%, respectively). The frequency of the genotypes carrying (TG)12 or T5 was statistically significantly higher in men with high semen viscosity (39.1%) than in the normospermic control group (16.7%). Four men with high semen viscosity showed the variant (TG)12T5 haplotype; one of these men presented variant tracts on both alleles. None of the normospermic controls showed a (TG)12T5 haplotype. Semen hyperviscosity could be considered a minimal clinical expression of cystic fibrosis; CFTR gene sequence variations may constitute the genetic basis for this disease.
