Abstract
The common mutation causing cystic fibrosis (CF) is deletion of phenylalanine 508 (deltaF508). This mutation was analyzed in over 200 North American families using the polymerase chain reaction and hybridization with allele specific oligonucleotides. The deltaF508 mutation was present on 75.8% of non-Ashkenazic Caucasian chromosomes; 96% of the deltaF508 chromosomes carried the B haplotype for XV-2c and KM-19. Only 30.3% of Ashkenazic CF chromosomes carried the deltaF508 mutation, although the B haplotype for XV-2c and KM-19 was found on 97% of Ashkenazic CF chromosomes.
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© 1991 Springer Science+Business Media New York
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Beaudet, A.L. et al. (1991). Mutation Analysis for Cystic Fibrosis in a North American Population. In: Tsui, LC., Romeo, G., Greger, R., Gorini, S. (eds) The Identification of the CF (Cystic Fibrosis) Gene. Advances in Experimental Medicine and Biology, vol 290. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5934-0_7
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DOI: https://doi.org/10.1007/978-1-4684-5934-0_7
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-5936-4
Online ISBN: 978-1-4684-5934-0
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