Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics
- 1 April 1990
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 84 (5), 449-454
- https://doi.org/10.1007/bf00195818
Abstract
The prenatal diagnosis of cystic fibrosis is now routinely performed by using two probes tightly linked to the CF locus (XV2C and KM19). These probes have been shown to exhibit a strong linkage disequilibrium with the CF locus. Our data (103 families) have been pooled with other French data (237 families). They are consistent with the hypothesis of a unique ancestral mutation initially associated with a B (D1E2) restriction fragment length polymorphism (RFLP) haplotype, subsequently reassociated by cross-over with A, C or D haplotypes. Assuming such an hypothesis, the mutation is supposed to be 3000–6000 years old, depending on generation length and the true recombination ratio between the KM19 and CF loci. Up-to-date Spanish, Danish and Greek data are reported together with other previously published population data in order to discuss the geographic origin and age of the mutation in Europe. The action of selection in terms of heterozygote advantage and distorsion of segregation is discussed.Keywords
This publication has 26 references indexed in Scilit:
- Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNAScience, 1989
- Cystic fibrosis: typing 89 German families with linked DNA probesHuman Genetics, 1988
- RECOMBINATIONS BETWEEN IRP AND CYSTIC-FIBROSIS1988
- GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUSThe Lancet, 1988
- Patterns of polymorphism and linkage disequilibrium for cystic fibrosisGenomics, 1987
- Hypothesis: A selective advantage for cystic fibrosis heterozygotesAmerican Journal of Physical Anthropology, 1987
- Linkage relationships and allelic associations of the cystic fibrosis locus and four marker lociHuman Genetics, 1987
- Cystic fibrosis?a single locus disease?Human Genetics, 1987
- FURTHER DATA SUPPORTING LINKAGE BETWEEN CYSTIC-FIBROSIS AND THE MET ONCOGENE AND HAPLOTYPE ANALYSIS WITH MET AND PJ3.111986
- Genetic studies on cystic fibrosis in Hawaii.1968