Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis

Annals of Human Genetics
F MarroniG Bevilacqua

Abstract

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 segment of about 25 cM, including 37 short tandem repeats (STRs) on both sides of the BRCA1 gene (DeCode map), was typed in 50 subjects (28 mutation carriers) from 14 unrelated families. The time to the most recent common ancestor (MRCA) of the mutation carriers was estimated by the length of the shared haplotype between all possible pairs of individuals. A function relating the length of the shared haplotype to the time to the MRCA was obtained by a computer simulation. This approach gives results comparable with those of other existing mutation-dating methods, but does not depend explicitly on population-specific parameters such as allele frequencies, provides narrower confidence intervals (CI), and allows one to build an extended genealogical tree of all mutation carriers. The 1499insA mutation shared by the investigat...Continue Reading

References

Jan 1, 1986·Cold Spring Harbor Symposia on Quantitative Biology·E S Lander, D Botstein
May 15, 1997·The New England Journal of Medicine·J P StruewingM A Tucker
Jun 28, 2000·American Journal of Human Genetics·P CiottiA M Goldstein
Mar 20, 2001·American Journal of Human Genetics·M StephensP Donnelly
Dec 4, 2001·Nature Genetics·Gonçalo R AbecasisLon R Cardon
Jan 17, 2002·American Journal of Human Genetics·Qing-Yang HuangHong-Wen Deng
Jun 8, 2002·Nature Genetics·Augustine KongKari Stefansson
Jul 13, 2002·Journal of Medical Genetics·H TuliniusJ E Eyfjord
Oct 9, 2003·Breast Cancer Research and Treatment·Paolo AretiniSilvano Presciuttini
Jun 26, 2004·Breast Cancer Research : BCR·Evgenia K MikaelsdottirThorunn Rafnar
Jan 1, 1996·TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·J Zhu, B S Weir

❮ Previous
Next ❯

Citations

May 18, 2010·BMC Genetics·Celia M T GreenwoodWilliam D Foulkes
Sep 13, 2019·Breast Cancer Research and Treatment·R ScarpittaM A Caligo
Mar 30, 2012·The Journal of Clinical Endocrinology and Metabolism·Francesca SchiaviGiuseppe Opocher
Nov 23, 2020·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Ewa SieliwonczykBart Loeys
Jun 3, 2021·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Zornitsa PavlovaAlbena Todorova
Sep 19, 2021·BMC Genomics·Xiaoyu Wang, San Ming Wang

❮ Previous
Next ❯

Related Concepts

Related Feeds

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.