Subject(s)
Cystic Fibrosis/genetics , Cystic Fibrosis/epidemiology , DNA Mutational Analysis , Gene Frequency , Haplotypes , Humans , Israel/epidemiology , JewsABSTRACT
We have analysed the distribution of the delta F508 mutation and the haplotypes of cystic fibrosis (CF) bearing chromosomes among the Israeli CF population. The population was classified according to its ethnic origin and included 3 groups, Ashkenazi Jews, Sephardic/Oriental Jews and Arabs. Haplotype B (KM19 allele 2, XV2c allele 1) was found to be the predominant haplotype in all groups but in each of them the haplotype distribution was different. The delta F508 mutation was present in all groups and accounts for 32% of the CF mutations. It was mainly associated with the B haplotype but only one third of the CF chromosomes with this haplotype carry the delta F508 mutation.
Subject(s)
Chromosome Deletion , Cystic Fibrosis/genetics , Cystic Fibrosis/epidemiology , Ethnicity , Gene Frequency , Humans , Israel/epidemiology , Jews , Polymorphism, Restriction Fragment LengthABSTRACT
The linkage relationships between the cystic fibrosis (CF) locus and four marker loci (MET-H, MET-D, D7S8 and D7S16), allelic associations between these loci and the extent of informativity at these marker loci were investigated in a sample of 206 families with at least one child affected by CF. The data were contributed by 11 laboratories from Europe and Israel. The maximum lod scores and recombination frequency estimates (luminal diameter) (and confidence limits of luminal diameter) were: 18.3 at luminal diameter = 0.007 (0.001-0.038) for CF vs. MET, 11.0 at luminal diameter = 0.016 (0.001-0.068) for CF vs. D7S8, and 5.7 at luminal diameter = 0.0 (0.0-0.064) for CF vs. D7S16. A gene order of CF-MET-D7S8 was best supported by the data, but its preference to the order D7S8-CF-MET is mainly based on one single family. There are significant allelic associations between CF, MET, D7S8 and D7S16; these allelic associations affect the risk of random individuals to be carriers of CF.
Subject(s)
Alleles , Cystic Fibrosis/genetics , Genetic Linkage , Genetic Markers , DNA/genetics , Gene Frequency , Heterozygote , Humans , Lod Score , Polymorphism, Restriction Fragment LengthABSTRACT
A case of ante-natal diagnosis of complete obstruction of the urethra is reported. By repeated ultrasonic B-scans a distended bladder filling the abdominal cavity could be seen, and a hydroureter was demonstrated. By early diagnosis of this condition, which is incompatible with life, a decision to terminate pregnancy can be made.
