Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews.
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.
Patael
Y
Y
Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Figer
A
A
Gershoni-Baruch
R
R
Papa
M Z
MZ
Risel
S
S
Shtoyerman-Chen
R
R
Karasik
A
A
Theodor
L
L
Friedman
E
E
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