title: Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.
abstract: Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in couples undergoing assisted reproduction techniques (ART), because of the high prevalence of healthy carriers in the population and the pathogenic relationship with congenital bilateral absence of vas deferens (CBAVD). However, discordant data have been reported concerning the usefulness of this genetic test in couples with no family history of cystic fibrosis (CF). In this study, we report the results of CFTR molecular screening in 1195 couples entering ART. Genetic testing was initially carried out in a single partner of each couple. CFTR mutations were detected in 55 subjects (4.6%), a percentage that overlaps with the one reported in the general population. However, significantly higher frequencies of were found in CBAVD individuals (37.5%) and in males with nonobstructive azoospermia (6.6%). The 5T allele was found in 78 patients (6.5%). This figure was again significantly different in males with nonobstructive-azoospermia (9.9%) and in those with CBAVD (100%). All together, 139 subjects (11.6%) had either a CFTR mutation or the 5T allele. Subsequent molecular analysis of their partners disclosed a CFTR mutation or 5T allele in nine cases (6.5%). However, none of these couples had CFTR alterations in both members, a CFTR mutation being invariably present in one partner and the 5T allele in the other. In order to improve genetic counselling of these couples, the TG-M470V-5T association was analyzed, and a statistically significant relationship between 12TG-V470 and CBAVD was detected.
authors.affiliation: Dipartimento di Scienze Biomediche, Università G. d'Annunzio, Chieti Pescara, Italy. stuppia@unich.de
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
authors.forename: Ivana
authors.initials: I
authors.lastname: Antonucci
authors.forename: Francesco
authors.initials: F
authors.lastname: Binni
authors.forename: Alessandra
authors.initials: A
authors.lastname: Brandi
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Grifone
authors.forename: Alessia
authors.initials: A
authors.lastname: Colosimo
authors.forename: Mariella
authors.initials: M
authors.lastname: De Santo
authors.forename: Valentina
authors.initials: V
authors.lastname: Gatta
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Gelli
authors.forename: Valentina
authors.initials: V
authors.lastname: Guida
authors.forename: Silvia
authors.initials: S
authors.lastname: Majore
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
authors.forename: Chiara
authors.initials: C
authors.lastname: Palka
authors.forename: Anna
authors.initials: A
authors.lastname: Ravani
authors.forename: Rosanna
authors.initials: R
authors.lastname: Rinaldi
authors.forename: Gian Mario
authors.initials: GM
authors.lastname: Tiboni
authors.forename: Enzo
authors.initials: E
authors.lastname: Ballone
authors.forename: Anna
authors.initials: A
authors.lastname: Venturoli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.forename: Isabella
authors.initials: I
authors.lastname: Torrente
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
authors.forename: Elisa
authors.initials: E
authors.lastname: Calzolari
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000483:Alleles; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007246:Infertility / Q000235:genetics; D008297:Male; D009154:Mutation; D027724:Reproductive Techniques, Assisted
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator