Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles

Human Mutation
C VerlingueC Ferec

Abstract

To date, a large number of mutations causing the disease, cystic fibrosis, have been reported worldwide. Having analysed the coding sequence of a sample of cystic fibrosis (CF) patients from Russia, we have identified three novel CF mutations. Two of them, 175 del C in exon 1 and 624 del T in exon 5, are frameshift mutations, predicted to result in premature termination of the CFTR transcript. The third mutation is missense and occurs in exon 12 (D572N). The profile of mutations in this sample of Russian CF patients is particular, with two mutations in exon 13 (2143 del T and 2184 ins A), accounting for 12% of the non-delta F508 alleles.

References

Jun 1, 1992·Nature Genetics·C FérecC Verlingue
Sep 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·J M RommensJ K Foskett
Dec 13, 1990·The New England Journal of Medicine·G R CuttingS E Antonarakis
Nov 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·B S KeremJ M Rommens
Jan 1, 1993·Human Molecular Genetics·M P AudrézetC Férec
Dec 1, 1993·Molecular and Cellular Probes·M P AudrézetC Férec
Jan 1, 1993·Human Mutation·A L Beaudet, L C Tsui

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Citations

Feb 8, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Gergely IvadyIstvan Balogh
May 21, 2005·Journal of Human Hypertension·J C EisenmannK A Heelan
Oct 29, 2005·American Journal of Human Biology : the Official Journal of the Human Biology Council·Denis GarnierEric Bénéfice
Dec 24, 2013·Journal of Religion and Health·Fereshteh Ahmadi, Nader Ahmadi

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