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High frequency of (TG)mTn variant tracts in the cystic fibrosis transmembrane conductance regulator gene in men with high semen viscosity
- Source :
- Fertility and Sterility. 82:1316-1322
- Publication Year :
- 2004
- Publisher :
- Elsevier BV, 2004.
-
Abstract
- Objective To evaluate a possible correlation between abnormal semen consistency and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and variant tracts. Design Study of CFTR mutations and variant tracts in men with high semen viscosity as compared with normospermic men. Setting University-based centers for andrology, clinical biochemistry, and cystic fibrosis. Patient(s) Forty-six male partners from infertile couples with sine causa high semen viscosity compared with 72 normospermic men. Intervention(s) Semen sample collection. Main outcome measure(s) We obtained the (TG)mTn polymorphic tracts and a panel of 31 mutations of CFTR, semen viscosity, and semen variables. Result(s) 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. Conclusion(s) Semen hyperviscosity could be considered a "minimal clinical expression" of cystic fibrosis; CFTR gene sequence variations may constitute the genetic basis for this disease.
- Subjects :
- Male
medicine.medical_specialty
Genotype
Cystic Fibrosis Transmembrane Conductance Regulator
Cystic fibrosis
semen hyperviscosity
CFTR polyvariant tracts
(TG)mTn
Semen
Biology
Gene mutation
fluids and secretions
Gene Frequency
Polymorphism (computer science)
Internal medicine
medicine
Humans
Allele
Alleles
Polymorphism, Genetic
Viscosity
Haplotype
Genetic Variation
Obstetrics and Gynecology
medicine.disease
Cystic fibrosis transmembrane conductance regulator
Endocrinology
Reproductive Medicine
Case-Control Studies
Mutation
biology.protein
Subjects
Details
- ISSN :
- 00150282
- Volume :
- 82
- Database :
- OpenAIRE
- Journal :
- Fertility and Sterility
- Accession number :
- edsair.doi.dedup.....11abb52aa7163a897301989c9f56c707