ABSTRACT
The frequency of the delta F508 mutation in a sample of 29 cystic fibrosis (CF) families from the USSR is equal to 44.8%, in agreement with previously reported haplotype data. If confirmed on a larger sample of CF patients from the USSR, this result might be indicative of the presence of a larger heterogeneity of CF mutations in the Soviet population than in other European populations.
Subject(s)
Cystic Fibrosis/genetics , Mutation , Cystic Fibrosis/epidemiology , Gene Frequency , Humans , USSR/epidemiologyABSTRACT
Two RFLP's closely linked to the CF gene (KM.19/PstI and XV-2c/TaqI) have been analysed in a sample of CF families in which one or more affected children had been diagnosed by the CF Centre of Odessa. The most frequent haplotype in CF chromosomes (2-1) is the same observed with higher frequency in other populations. If confirmed on a larger sample of CF patients from the USSR, this result might be indicative of heterogeneity of mutations present in the Soviet population.