title: Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews.
abstract: A common germline missense mutation within the APC gene, I1307K, has recently been described in Ashkenazi Jews. We detected this polymorphism in two non-Ashkenazi Jewish women using denaturing gradient gel electrophoresis (DGGE), and hypothesized that in Jewish individuals it might not be restricted to Ashkenazim, and actually reflect a common ancestral polymorphism. To test this notion we performed allelic pattern determination using APC-linked markers in these two women and in nine Ashkenazi carrier controls. The pattern of the intragenic markers, as well as a single downstream marker 30-70 Kb from the APC gene was identical in all individuals, regardless of ethnic origin. We conclude that the I1307K polymorphism in Jewish individuals, is not restricted to Ashkenazim and probably reflects a founder mutation.
authors.affiliation: Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Patael
authors.forename: A
authors.initials: A
authors.lastname: Figer
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: M Z
authors.initials: MZ
authors.lastname: Papa
authors.forename: S
authors.initials: S
authors.lastname: Risel
authors.forename: R
authors.initials: R
authors.lastname: Shtoyerman-Chen
authors.forename: A
authors.initials: A
authors.lastname: Karasik
authors.forename: L
authors.initials: L
authors.lastname: Theodor
authors.forename: E
authors.initials: E
authors.lastname: Friedman
mesh_terms: D005260:Female; D017491:Genes, APC; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation; D006801:Humans; D007585:Jews; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011110:Polymorphism, Genetic