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The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland by R. Donat; A.S. McNeill; D.R. FitzPatrick; T.B. Hargreave is a Medicine article available to read on EtoBox.

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## Objective: To examine the incidence of cystic fibrosis transmembrane-conductance regulator (cftr) gene mutations in scottish patients with congenital bilateral absence of the vas deferens (cbavd). ## Patients and methods: Thirty patients with cbavd presenting consecutively to the edinburgh infertility clinic were examined for cftr gene mutations. all patients were assessed clinically and tested for 15 gene mutations using a single-tube polymerase chain-reaction multiplex system. ## Results: All patients were in good health and without clinical evidence of cystic fibrosis. cftr gene mutations were found in 70% of patients with cbavd. ## Conclusion: Cftr gene-testing and genetic counselling are important in all men with cbavd.

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Author

R. Donat; A.S. McNeill; D.R. FitzPatrick; T.B. Hargreave

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 1464-4096)

Published

1996

Language

EN

Field

Medicine (Health Sciences)