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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
Author(s) -
Verlingue C.,
Kapranov N. I.,
Mercier B.,
Ginter E. K.,
Petrova N. V.,
Audrezet M. P.,
Férec C.
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380050304
Subject(s) - exon , frameshift mutation , biology , missense mutation , coding region , genetics , allele , cystic fibrosis , gene , mutation , microbiology and biotechnology
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‐δF508 alleles. © 1995 Wiley‐Liss, Inc.