Frequency of the ΔF508 mutation on cystic fibrosis chromosomes in Denmark

M Schwartz, HK Johansen, C Koch, NJ Brandt - Human Genetics, 1990 - Springer
M Schwartz, HK Johansen, C Koch, NJ Brandt
Human Genetics, 1990Springer
We have investigated the frequency of the ΔF508 mutation on cystic fibrosis (CF)
chromosomes in Denmark. Of 304 chromosome tested, 86.8% have the ΔF508 mutation.
The majority of the chromosomes with this mutation are found on chromosomes with the
XV2c/KM19 haplotype B (97.3%), whereas 15/16 chromosomes with haplotype C have
another mutation, confirming that only very few mutations will account for the majority of CF
genes in the Danish population.
Summary
We have investigated the frequency of the ΔF508 mutation on cystic fibrosis (CF) chromosomes in Denmark. Of 304 chromosome tested, 86.8% have the ΔF508 mutation. The majority of the chromosomes with this mutation are found on chromosomes with the XV2c/KM19 haplotype B (97.3%), whereas 15/16 chromosomes with haplotype C have another mutation, confirming that only very few mutations will account for the majority of CF genes in the Danish population.
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