Activities per year
Abstract
The major mutation involved in Cystic Fibrosis (CF), present on about 70 % of cystic fibrosis chromosomes is a deletion of a Phe residue at codon 508 (?F508) of the protein product. Over 500 different mutations have now been identified in the CF gene, but frequencies and types of mutations vary according to the geographic and ethnic origin of the population tested. Today testing for cystic fibrosis mutations is easily performed using commercially available testing kits.
We report on the results of a routine population CF carrier screening : 1120 unrelated individuals, of Belgian origin with no history of CF and attending our genetic counseling service, were analyzed with a testkit screening simultaneously for 8 mutaion shown to be present in this population (Inno-LiPaCF2 kit, Innogenetics). The CF gene analysis shows that among 2240 alleles tested 47 (4.2 %) carry a mutation: 44 have the ?F508 mutation, while only 1 and 2 individuals carry the G542X and 1717-1G->A mutation respectively. The risk of being a carrier is estimated by these date to be at 1 in 24 (23.8). None of the following 5 mutations were found : ?I507, G551D, R553X, N1303K and W1282X. The frequency of the ?F508 mutation is this screening sample of the Belgian population matches data earlier reported. Of course testing for only 8 frequent mutations does not alow the detection of all possible carriers, but previous studies characterizing mutations in CF patients already revealed that by analysis of these 8 mutations about 83-85 % of the Belgian CF carriers will be identified.
Genetic screening programs aiming to identify all CF mutations are impossible in this heterogeneous population.
We report on the results of a routine population CF carrier screening : 1120 unrelated individuals, of Belgian origin with no history of CF and attending our genetic counseling service, were analyzed with a testkit screening simultaneously for 8 mutaion shown to be present in this population (Inno-LiPaCF2 kit, Innogenetics). The CF gene analysis shows that among 2240 alleles tested 47 (4.2 %) carry a mutation: 44 have the ?F508 mutation, while only 1 and 2 individuals carry the G542X and 1717-1G->A mutation respectively. The risk of being a carrier is estimated by these date to be at 1 in 24 (23.8). None of the following 5 mutations were found : ?I507, G551D, R553X, N1303K and W1282X. The frequency of the ?F508 mutation is this screening sample of the Belgian population matches data earlier reported. Of course testing for only 8 frequent mutations does not alow the detection of all possible carriers, but previous studies characterizing mutations in CF patients already revealed that by analysis of these 8 mutations about 83-85 % of the Belgian CF carriers will be identified.
Genetic screening programs aiming to identify all CF mutations are impossible in this heterogeneous population.
Original language | English |
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Title of host publication | 20th European Cystic Fibrosis Conference, Brussels, Belgium |
Number of pages | 1 |
Publication status | Published - 1996 |
Event | Unknown - Duration: 1 Jan 1995 → … |
Conference
Conference | Unknown |
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Period | 1/01/95 → … |
Keywords
- CF
- cystic fibrosis
- CF carrier screening
- Belgian population
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Dive into the research topics of 'CF-carrier screening in 1120 individuals of the Belgian population.'. Together they form a unique fingerprint.Activities
- 1 Participation in conference
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European Cystic Fibrosis Conference, 2Oth
Sara Seneca (Participant)
18 Jun 1995 → 21 Jun 1995Activity: Participating in or organising an event › Participation in conference