Original article—alimentary tractAmerican Founder Mutation for Attenuated Familial Adenomatous Polyposis
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Research Subjects and Genealogy
This study was approved by the University of Utah Institutional Review Board and by the University of Utah Resource for Genetic and Epidemiologic Research, which oversees the appropriate use of the Utah Population Database. Informed consent was obtained from all research participants. Research participants included 490 members from 2 affected branches of kindred 353 (145 of these are mutation-positive) and 99 members of kindred 439 (36 of these are mutation-positive). Colonoscopy results with
Identification of Common Founder
By using family history records and standard genealogy methods, kindreds 353 and 439 were traced to a common founding couple who were born in England in the 1590s (Figure 1). The couple was married in St. Nicholas, Somerset, England, in 1615 and had 4 children born in England between 1615 and 1624. The couple, along with at least 2 of their children, arrived in America some time before 1640, when their daughter was married in Weymouth, Norfolk, Massachusetts. A son born in 1615 is the ancestor
Discussion
We previously described the clinical phenotype of 2 American kindreds with the identical APC mutation, and have long suspected common ancestry. Here we present clear evidence linking both pedigrees to a founding couple who came to America from England in the early 1600s. In addition, kindred 353 and kindred 439 members share an identical genetic haplotype of 7.17 Mbp around the APC locus. Thirteen additional American kindreds with the identical mutation share the APC haplotype. Taken together,
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This research is supported by National Cancer Institute grants P01-CA073992 (R.W.B.) R01-CA040641 (R.W.B.), the Utah Cancer Registry, which is funded by contract number NCI-CN-67000, the Utah Department of Health, the University of Utah, and the Huntsman Cancer Foundation. Partial support of Utah Population Database is provided by the University of Utah and Huntsman Cancer Institute.