Summary
A group of 42 cystic fibrosis (CF) patients and 80 heterozygote carriers was analysed for determining the prevalent CF haplotypes and the frequency of ΔF508. The “high-risk” haplotype B (XV2c-KM19/1 2) was found in 66% of CF chromosomes. The prevalent normal haplotypes were A (1 1) and B (2 1). The deletion was detected in 54 CF chromosomes (56%), homozygotes constituting 35% of all CF patients. In 88% of cases the mutation was linked to haplotype B, and in 12% to haplotype D (2 2). Chromosomes that did not have ΔF508 were found to be evenly distributed among all four XV2c-KM19 haplotypes. The use of restriction fragment length polymorphisms and direct detection of the mutation makes 94% of CF families fully informative for prenatal analysis.
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Kalaydjieva, L., Antov, J., Bronzova, J. et al. Molecular data on cystic fibrosis in Bulgaria. Hum Genet 85, 412–413 (1990). https://doi.org/10.1007/BF02428285
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DOI: https://doi.org/10.1007/BF02428285