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

doi:10.1038/sj.ejhg.5200325

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 journal › Article › peer-review

15 Scopus citations

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 language	English
Pages (from-to)	555-559
Number of pages	5
Journal	European Journal of Human Genetics
Volume	7
Issue number	5
DOIs	https://doi.org/10.1038/sj.ejhg.5200325
State	Published - Jul 1999
Externally published	Yes

Keywords

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

Access to Document

10.1038/sj.ejhg.5200325

Cite this

@article{0360f80ad2eb47f9b6653df8ccda55d8,

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.",

keywords = "APC gene, Common haplotype, DGGE, Founder effect, Germline mutations, Non-Ashkenazi Jews",

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

year = "1999",

month = jul,

doi = "10.1038/sj.ejhg.5200325",

language = "אנגלית",

volume = "7",

pages = "555--559",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "5",

}

TY - JOUR

T1 - Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews

AU - Patael, Yael

AU - Figer, Arie

AU - Gershoni-Baruch, Ruth

AU - Papa, Moshe Z.

AU - Risel, Shulamit

AU - Shtoyerman-Chen, Rakefet

AU - Karasik, Avraham

AU - Theodor, Livia

AU - Friedman, Eitan

PY - 1999/7

Y1 - 1999/7

N2 - 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.

AB - 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.

KW - APC gene

KW - Common haplotype

KW - DGGE

KW - Founder effect

KW - Germline mutations

KW - Non-Ashkenazi Jews

UR - http://www.scopus.com/inward/record.url?scp=0032809994&partnerID=8YFLogxK

U2 - 10.1038/sj.ejhg.5200325

DO - 10.1038/sj.ejhg.5200325

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 10439961

AN - SCOPUS:0032809994

SN - 1018-4813

VL - 7

SP - 555

EP - 559

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 5

ER -

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

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this