Article
Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis.
Annals of human genetics - 1 May 2008
Marroni F, Cipollini G, Peissel B, D'Andrea E, Pensabene M, Radice P, Caligo M A, Presciuttini S, Bevilacqua G
Abstract excerpt
Estimating the age of founder mutations may contribute to improve our knowledge of population genetics and evolutionary history of diseases. Previous haplotype analysis suggested that the BRCA1*1499insA mutation was a founder allele, probably originated in Tuscany (Italy). Here, we collected additional pedigrees carrying this mutation, and applied a phylogenetic method for estimating mutation age. A chromosome...
Topics
- BRCA1 Protein
- Founder Effect
- Haplotypes
- Heterozygote
- Humans
- Models, Genetic
- Mutation
- Pedigree
- Phylogeny
- Time Factors