• PMID: 21762191
• Gene Name: CFTR
• Condition: congenital bilateral absence of the vas deferens (CBAVD)
• Association: There was no association between IVS8-polyT polymorphism and reduced semen quality. Neither ?F508 mutation nor 5T allele is involved in pathogenesis of male infertility in Tunisian infertile patients without CBAVD.
• Mutation: IVS8-polyT
• Population size: 457
• Population details: 457 (148 infertile patients, 126 fertile individuals, 129 infertile patients, 54 controls )
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: congenital bilateral absence of the vas deferens (CBAVD)

Screening of ?F508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD

Ghorbel M, Baklouti-Gargouri S, Keskes R, Sellami-Ben Hamida A, Feki-Chakroun N, Bahloul A, Fakhfakh F, Ammar-Keskes L.

It is well established that cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations are involved in congenital bilateral absence of the vas deferens (CBAVD), causing obstructive azoospermia and male infertility. Also, several studies reported a relatively high prevalence of CFTR gene mutations in healthy men presenting reduced sperm quality. In this study, we investigate ΔF508 mutation and IVS8-polyT polymorphism in CFTR gene in Tunisian infertile men without CBAVD. Genetic analyses were performed in 148 infertile patients and 126 fertile individuals. The polymorphic IVS8-polyT tract in CFTR gene was analysed in only 129 infertile patients and 54 individuals of control group. As well, we screened for Y chromosome microdeletions in all infertile patients. No ΔF508 mutation was diagnosed either in infertile patients or in control group. 5T allele of IVS8-polyT tract was found in both infertile men (4.26%) and fertile individuals (8.33%). 5T/5T genotype was observed only in two azoospermic patients without Y microdeletions. The most frequent genotype of IVS8-polyT tract in infertile men and controls was 7T/7T (69.75% and 59.25% respectively). There was no association between IVS8-polyT polymorphism and reduced semen quality. Neither ΔF508 mutation nor 5T allele is involved in pathogenesis of male infertility in Tunisian infertile patients without CBAVD. CI - © 2011 Blackwell Verlag GmbH. FAU - Ghorbel, M AU - Ghorbel M AD - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. myriamgh29@gmail.com FAU - Baklouti-Gargouri, S AU - Baklouti-Gargouri S FAU - Keskes, R AU - Keskes R FAU - Sellami-Ben Hamida, A AU - Sellami-Ben Hamida A FAU - Feki-Chakroun, N AU - Feki-Chakroun N FAU - Bahloul, A AU - Bahloul A FAU - Fakhfakh, F AU - Fakhfakh F