Homogeneity of Cystic Fibrosis in Italy
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In 12 unrelated Italian cystic fibrosis (CF) families the frequencies of four DNA polymorphisms closely linked to the CF gene on chromosome 7 were quite similar to those reported for other population samples. Among the 23 affected children from the 12 families, only one recombinant occurred between the CF gene and the met locus, thus confirming the hypothesis of genetic homogeneity of CF previously suggested by the analysis of consanguineous marriages among 624 couples of CF parents. Chi-square test of association indicates a possible linkage disequilibrium between the CF gene and the DNA polymorphism that is most informative in our sample (pmetH TaqI).
Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus.
Scambler P, Estivill X, Bell G, Farrall M, Mclean C, Newman R Nucleic Acids Res. 1987; 15(9):3639-52.
PMID: 3473444 PMC: 340773. DOI: 10.1093/nar/15.9.3639.
A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers.
Jorde L, Lathrop G Am J Hum Genet. 1988; 42(6):808-15.
PMID: 3369446 PMC: 1715197.
Genetic markers on chromosome 7.
Tsui L J Med Genet. 1988; 25(5):294-306.
PMID: 3290488 PMC: 1050454. DOI: 10.1136/jmg.25.5.294.