Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews

Yael Patael, Arie Figer, Ruth Gershoni-Baruch, Moshe Z. Papa, Shulamit Risel, Rakefet Shtoyerman-Chen, Avraham Karasik, Livia Theodor, Eitan Friedman

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)555-559
Number of pages5
JournalEuropean Journal of Human Genetics
Volume7
Issue number5
DOIs
StatePublished - Jul 1999
Externally publishedYes

Keywords

  • APC gene
  • Common haplotype
  • DGGE
  • Founder effect
  • Germline mutations
  • Non-Ashkenazi Jews

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