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Population variation of common cystic fibrosis mutations

Cheadle, Jeremy Peter 1994. Population variation of common cystic fibrosis mutations. Human Mutation 4 (3) , pp. 167-177. 10.1002/humu.1380040302

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Abstract

Since the identification of the gene and the major mutation responsible for cystic fibrosis (CF) in 1989, more than 400 presumed mutations and about 90 DNA sequence variations have been identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the past 4 years. A list of CFTR mutations can be found in an earlier report in this journal (Tsui, 1992). While ∆F508 appears to be common in all study populations its relative frequency varies among different geographic locations (CF Genetic Analysis Consortium, 1990). The distribution of other CF mutations has also been found to be heterogeneous among different populations. In fact, most of the described mutations have only been detected in the original reported cases. To obtain a better understanding of the distribution of the relatively common mutations in the world population, CF mutation screening data were collected for the 30 most common mutations from members of the CF Genetic Analysis Consortium in October 1993. The list of mutations was chosen according to an earlier compilation completed in May 1992 (unpublished data). As the updated test results show, there were only 19 mutations, each detected on 50 or more chromosomes. The center-by-center distribution for 24 of the more commons mutations is shown in Table 1 and the distribution by continent is summarized in Table 2. Two of the previously surveyed mutations, namely, Y122X and 3905insT, are included in Table 3. The three other mutations that were surveyed but not reported here are Q493X, S549R (T→G), and 3849 + 4A→G (≤20 chromosomes each; actual numbers available from L. C. Tsui). Since the broad survey could have missed some of the mutations that are present in substantial proportion (i.e. ≥1%) in some study populations, members of the Consortium were also asked to submit data for such unique mutations not listed in Tables 1 and 2. The results are displayed in Table 3. Most notably, 394delTT is a mutation that was not included in the previous survey but detected on more than 50 chromosomes. It is important to note that the frequencies reported here are the best estimate provided by each participating group. The investigators (up to 3 listed per group) responsible for each data set are shown in the respective tables as contributors to this report. Although an effort has been made to minimize the redundant data, there may be a slight overlap of samples. Moreover, the data presented here are essentially derived from testing CF patients; the frequencies shown may not reflect the true proportion of these mutations in the respective populations due to possible sampling bias. Some of the data have appeared in previous reports. Because of the large number of entries, however, references are only cited for the original mutation descriptions. In conclusion, this report has compiled population data to document that there is a striking difference in the distribution of CFTR mutations in different populations; the overall detection rate for the 24 most common mutations surveyed varies from 50% to 97% (Tables 1,2). This information is important when designing strategies for DNA testing of cystic fibrosis.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Wiley-Blackwell
ISSN: 1059-7794
Last Modified: 04 Jun 2017 06:30
URI: http://orca.cf.ac.uk/id/eprint/61266

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