...) haplotypes. Results: We found a common haplotype in all of the patients carrying the common mutation. The age of the mutation was estimated to be about 375 years. Conclusion: There is a recent founder effect in our population for this particular genetic alteration in variegate porphyria. References 1...

... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Consanguinity Founder effect Genetic counselling Mucopolysaccharidosis VI Consanguinity and National/Community Disease Profiles Hum Hered...

... to in the content or advertisements. Consanguinity Endogamy Founder effect Genetic disease Founder mutation Tunisian population Consanguinity and National/Community Disease Profiles Hum Hered 2014;77:167 174 DOI: 10.1159/000362167 Published online: July 29, 2014 Specific Aspects of Consanguinity: Some...

... diffusion Founder effect Admixture Ancient DNA Hum Hered 2013;76:133 141 DOI: 10.1159/000357957 Genetic Evidence for Prehistoric Demographic Changes in Europe Guido Barbujani Department of Life Sciences and Biotechnologies, University of Ferrara, Ferrara, Italy Published online: May 21, 2014 Key Words...

... 985 of MCAD cDNA (G985). In a limited number of cases it was found that this mutation was always associated with a particular haplotype, defined by three intragenic restriction fragment length polymorphisms, indicating a founder effect [Kølvraa et al.; Hum Genet 1991;87:425–429]. In addition, recent...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. French Canadian Hyperchylomicronemia Lipoprotein lipase deficiency Founder effect Genetic epidemiology Population genetics Hum Hered 1991;41:168-173 © 1991 S. Karger...

... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Acute intermittent porphyria Founder effect Mutation Haplotype analysis Original Paper Hum Hered 2002;54:69 81 DOI: 10.1159/000067665 Received...

... and on the subsequent characterization of a Δ18-associated haplotype. The frequency of this haplotype in GSD II patients and normal individuals was 1 and 0.196, respectively (χ 2 = 20.9; p < 0.001). The high frequency of the Δ18 allele in this Italian subpopulation is likely to be due to a founder effect. 19 7...

... linkage disequilibria and association of FRDA expansions with a few haplotypes. FRDA haplotypes differ significantly from control haplotypes. Our results confirm that GAA repeat expansions in intron 1 of the frataxin gene are limited to a few chromosomes and indicate an obvious founder effect in German...