Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

Liborio Stuppia, Ivana Antonucci, Francesco Binni, Alessandra Brandi, Nicoletta Grifone, Alessia Colosimo, Mariella De Santo, Valentina Gatta, Gianfranco Gelli, Valentina Guida, Silvia Majore, Giuseppe Calabrese, Chiara Palka, Anna Ravani, Rosanna Rinaldi, Gian Mario Tiboni, Enzo Ballone, Anna Venturoli, Alessandra Ferlini, Isabella TorrentePaola Grammatico, Elisa Calzolari, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)959-964
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number8
Publication statusPublished - 2005


  • 5T allele
  • ART
  • CFTR gene

ASJC Scopus subject areas

  • Genetics(clinical)


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