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1.
Hum Genet ; 85(4): 423-4, 1990 Sep.
Article in English | MEDLINE | ID: mdl-2210759

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/epidemiology
2.
Acta Univ Carol Med (Praha) ; 36(1-4): 112-4, 1990.
Article in English | MEDLINE | ID: mdl-1983380

ABSTRACT

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.


Subject(s)
Cystic Fibrosis/genetics , Alleles , Child , Gene Frequency , Haplotypes , Humans , Mutation , Polymorphism, Restriction Fragment Length
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